Curated by Sushree Sahoo, PhD. Last updated November 1, 2023.
| Source | Year of Reporting | Presenting Disease | Inheritance | Patients | PMID with overlap cases | Germline SAMD9L Mut (cDNA) | Germline SAMD9L Mut (Protein) | gnomAD v2.1.1 MAF % | CADD Score (GRCh37-v1.4) | Somatic SAMD9/9L Mut | Karyotype; UPD | Mutated MDS/Leukemia Genes | Constitutional Abnormalities | Hematopoietic Phenotype | Infections | Mutation Effect (HEK293 Assay) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | I-1, Family2 | PMID 6947857 | c.3587G>C | p.C1196S | Novel | 21.9 | NA | NA | NA | Yes | No | NA | NA |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | II-4, Family2 | PMID 6947857 | c.3587G>C | p.C1196S | Novel | 21.9 | NA | NA | NA | Yes | Anemia | NA | NA |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | II-5, Family2 | PMID 6947857 | c.3587G>C | p.C1196S | Novel | 21.9 | NA | NA | NA | Yes | Anemia; cytopenia; AML | NA | NA |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | II-4, Family1 | c.2640C>A | p.H880Q | Novel | 22.5 | NA | NA | NA | Yes | Thrombocytopenia | NA | Growth inhibited | |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | III-3, Family1 | c.2640C>A | p.H880Q | Novel | 22.5 | NA | UPD7q in patient derived LCL | NA | Yes | Pancytopenia | Yes | Growth inhibited | |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | III-5, Family1 | c.2640C>A | p.H880Q | Novel | 22.5 | NA | NA | NA | Yes | Reduced megakaryocytes | NA | Growth inhibited | |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | III-6, Family1 | c.2640C>A | p.H880Q | Novel | 22.5 | NA | NA | NA | Yes | Mild cytopenia | NA | Growth inhibited | |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | III-8, Family1 | c.2640C>A | p.H880Q | Novel | 22.5 | NA | NA | NA | Yes | Cytopenia | NA | Growth inhibited | |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | IV-1, Family1 | c.2640C>A | p.H880Q | Novel | 22.5 | NA | NA | NA | Yes | No | NA | Growth inhibited | |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | IV-2, Family1 | c.2640C>A | p.H880Q | Novel | 22.5 | NA | NA | NA | Yes | Cytopenia | NA | Growth inhibited | |
| PMID 27259050 | 2016 | Ataxia pancytopenia | Heterozygous | IV-3, Family1 | c.2640C>A | p.H880Q | Novel | 22.5 | NA | UPD7q in patient derived LCL | NA | Yes | Cytopenia | NA | Growth inhibited | |
| PMID 29146900 | 2017 | MDS | Heterozygous | P6 (SJ040280)* | c.3842G>A | p.R1281K | Novel | 14.69 | NA | Del(7)(q22q36) | NA | NA | Refractory cytopenia | NA | Growth inhibited | |
| PMID 29146900 | 2017 | MDS | Heterozygous | P7 (SJ018222)* | PMID 31306780 | c.1877C>T | p.S626L | Novel | 23.3 | NA | Monosomy 7; 7q11.23-q36.3 del; UPD7q | C4orf40; PGAM2 | NA | Refractory cytopenia | NA | Growth inhibited |
| PMID 29146900 | 2017 | MDS | Heterozygous | P8 (P7's relatives, SJ018225)* | PMID 31306780 | c.1877C>T | p.S626L | Novel | 23.3 | NA | Normal | MAP5; MYCBP2; RALGAPA1; RALGAPA1; SPIRE2; C17orf68; MAST3; ATP2B3; TAF1 | NA | Refractory cytopenia | NA | Growth inhibited |
| PMID 29146900 | 2017 | MDS | Heterozygous | P5 (SJ018198)* | PMID 31306780 | c.3538T>C | p.W1180R | Novel | 12.68 | NA | Monosomy 7 | CACNA1S; TECR | NA | Refractory cytopenia | NA | Growth inhibited |
| PMID 28202457 | 2017 | MDS | Heterozygous | P8 (Family2:I-2)* | c.2672T>C | p.I891T | Novel | 26.7 | SAMD9L c.2302A>T (p.K768X; cis to germline SAMD9L) | NA | NA | Yes | NA | NA | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P9 (Family2:II-1)* | c.2672T>C | p.I891T | Novel | 26.7 | NA | UPD7q | NA | Yes | Severe aplastic anemia | Yes | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P10 (Family2:II-4)* | c.2672T>C | p.I891T | Novel | 26.7 | NA | Monosomy 7; UPD7q | NA | Yes | Thrombocytopenia; dysplastic megakaryocytes | Yes | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P1 (Family1:I-2)* | c.2956C>T | p.R986C | Novel | 16.25 | NA | NA | NA | Yes | Neutropenia; thrombocytopenia | NA | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P2 (Family1:I-3)* | c.2956C>T | p.R986C | Novel | 16.25 | NA | Duplication Chr1q; del(7q) | NA | Yes | B, NK, and monocytopenia; dysplastic features in megakaryocytopoiesis | Yes | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P3 (Family1:II-1)* | c.2956C>T | p.R986C, p.T233N (in trans) | Novel | 16.25 | No | NA | NA | NA | NA | NA | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P4 (Family1:II-2)* | c.2956C>T | p.R986C, p.T233N (in trans) | Novel | 16.25 | No | NA | NA | Yes | NA | NA | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P5 (Family1:II-4)* | c.2956C>T | p.R986C | Novel | 16.25 | SAMD9L c.2957G>T; c.1204_1208del (p.R986L cis to germline SAMD9L; p.L410RfsX8) | NA | NA | NA | Trilineage cytopenia | NA | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P6 (Family1:III-1)* | c.2956C>T | p.R986C | Novel | 16.25 | NA | NA | NA | Yes | Thrombocytopenia; trilineage cytopenia | Yes | Growth inhibited | |
| PMID 28202457 | 2017 | MDS | Heterozygous | P7 (Family1:III-2)* | c.2956C>T | p.R986C | Novel | 16.25 | NA | UPD7q | NA | NA | Transient thrombocytopenia | NA | Growth inhibited | |
| PMID 30046003 | 2018 | AML | Heterozygous paternal inheritance | 1A (Proband) | c.2640C>A | p.H880Q | Novel | 22.5 | No | Monosomy 7 | RUNX1; SETBP1; CBL | NA | Cytopenia; AML | NA | Growth inhibited | |
| PMID 30046003 | 2018 | AML | Heterozygous | 1B (Sibling of 1A) | c.2640C>A | p.H880Q | Novel | 22.5 | NA | Monosomy 7 | SETBP1; CBL; RUNX1; SETBP1; KRAS; BRAF | NA | AML | NA | Growth inhibited | |
| PMID 29146883 | 2018 | Aplastic anemia | Heterozygous paternal inheritance | P6 (UB022)* | c.3442G>C, TERC mutation carrier | p.D1148H | Novel | 21.4 | NA | Monosomy 7; del13q | NA | NA | Thrombocytopenia; leukopenia; RAEB1 | Yes | NA | |
| PMID 29146883 | 2018 | Aplastic anemia | Heterozygous | P8 (UB049)* | c.4477A>G | p.I1493V | Novel | 14.5 | NA | Monosomy 7 | NA | NA | Hypocellular MDS with monosomy 7 | NA | NA | |
| PMID 29146883 | 2018 | Aplastic anemia | Heterozygous | P1 (UB195)* | c.4561C>G | p.L1521V | MAF 0.0032% | 12.1 | NA | Monosomy 7 | NA | NA | Pancytopenia | NA | NA | |
| PMID 29146883 | 2018 | Aplastic anemia | Heterozygous | P4 (UB194)* | c.2519T>A | p.M840K | Novel | 22.8 | NA | Monosomy 7; del(6q) | NA | NA | Pancytopenia | NA | NA | |
| PMID 29146883 | 2018 | Aplastic anemia | Heterozygous | P2 (UB609)* | c.2956C>T | p.R986C | Novel | 16.25 | c.3337G>A (p.A1113T) | NA | Yes | Transient severe aplastic anemia | NA | Growth inhibited | ||
| PMID 29146883 | 2018 | Aplastic anemia | Heterozygous | P3 (UB612, son of UB609)* | c.2956C>T | p.R986C | Novel | 16.25 | NA | Transient monosomy 7 | NA | Yes | Transient severe aplastic anemia; transient IgG deficiency; mild cytopenia | NA | Growth inhibited | |
| PMID 29146883 | 2018 | Aplastic anemia | NA | P5 (UB081)* | c.4648T>C | p.S1550P | Novel | 9.916 | NA | NA | Yes | Transient cytopenia | NA | NA | ||
| PMID 29146883 | 2018 | Aplastic anemia | NA | P11 (UB112)* | c.2852_2853insACAC | p.T951fs | Novel | NA | NA | NA | NA | Pancytopenia | NA | NA | ||
| PMID 29217778 | 2018 | Familial MDS | Heterozygous | P7 (Family4, proband)* | PMID 34621053 | c.2640C>A | p.H880Q | Novel | 22.5 | c.3951_3955delTAAAG (p.S1317RfsX21; cis to germline SAMD9L) | UPD7q; Transient monosomy 7 | PTPN11 | NA | RCC | NA | Growth inhibited |
| PMID 29217778 | 2018 | Familial MDS | Heterozygous paternal inheritance | P5 (Family3, proband)* | PMID 34621053 | c.2956C>T | p.R986C | Novel | 16.25 | NA | UPD7q; Monosomy 7 | NRAS, RUNX1 | Yes | Cytopenia | NA | Growth inhibited |
| PMID 29217778 | 2018 | Familial MDS | Heterozygous | P3 (Family2, proband)* | PMID 31306780 | c.2957G>A | p.R986H | MAF 0.002% | 24.6 | NA | Monosomy 7 | NA | NA | RCC | NA | Growth inhibited |
| PMID 29217778 | 2018 | Familial MDS | Heterozygous | P4 (Family2, sibling of P3)* | PMID 31306780 | c.2957G>A | p.R986H | MAF 0.002% | 24.6 | NA | Monosomy 7; del(7q) | NA | NA | Cytopenia | Yes | Growth inhibited |
| PMID 29217778 | 2018 | Familial MDS | Heterozygous | P1 (Family1, proband)* | PMID 34621053 | c.4534G>A | p.V1512M | Novel | 25.2 | c.3562C>T (p.R1188*) | Monosomy 7 | SETBP1; EZH2; KRAS; ETV6 | Yes | Cytopenia; RCC | Yes | Growth inhibited |
| PMID 29217778 | 2018 | Familial MDS | Heterozygous | P2 (Family1, sibling of P1)* | PMID 34621053 | c.4534G>A | p.V1512M | Novel | 25.2 | NA | UPD7q; Transient monosomy 7 | NA | NA | RCC | NA | Growth inhibited |
| PMID 29217778 | 2018 | Familial MDS | Heterozygous | P6 (Family3, father of P5)* | c.2956C>T | p.R986C | Novel | 16.25 | NA | Del(7q) | NA | NA | MDS | NA | Growth inhibited | |
| PMID 30046003 | 2018 | Hypocellular BM and dysplastic changes | Heterozygous | 5B (Sibling of 5A) | c.3842G>A | p.R1281K | Novel | 14.69 | c.1082delT (p.V361fs) | NA | Yes | RCC | NA | Growth inhibited | ||
| PMID 30046003 | 2018 | Hypocellular BM and dysplastic changes | Heterozygous | 5C (Sibling of 5A) | c.3842G>A | p.R1281K | Novel | 14.69 | NA | NA | NA | RCC | NA | Growth inhibited | ||
| PMID 30046003 | 2018 | Hypocellular BM and dysplastic changes | Heterozygous | 5D (Sibling of 5A) | c.3842G>A | p.R1281K | Novel | 14.69 | c.2957G>T (p.R986L); c.3456_3458del (p.1152_1153del) | UPD7q | NA | NA | RCC | NA | Growth inhibited | |
| PMID 30046003 | 2018 | Hypocellular BM and dysplastic changes | Heterozygous | 5F (Sibling of 5A) | c.3842G>A | p.R1281K | Novel | 14.69 | c.3547C>T (p.Q1183*); c.3364A>T (p.T1122S); c.3365_3370del (p.1122_1124del); c.4189T>C (p.S1379P) | NA | NA | RCC | NA | Growth inhibited | ||
| PMID 29146883 | 2018 | MDS | NA | P9 (UB085)* | c.3100G>T | p.D1034Y | Novel | 25 | NA | NA | Yes | Anemia; leukopenia; RCMD | NA | NA | ||
| PMID 30046003 | 2018 | MDS | Heterozygous maternal inheritance | 3A (Proband) | c.2956C>T | p.R986C | Novel | 16.25 | c.3276C>G (p.F1092L) | Monosomy 7 | NA | NA | MDS | Yes | Growth inhibited | |
| PMID 29146883 | 2018 | MDS | Heterozygous | P10 (UB260)* | c.3427A>G, RTEL1 mutation carrier | p.S1143G | MAF 0.0012% | 1.557 | NA | Isochromosome 7q | NA | NA | Anemia; luekopenia | NA | Growth inhibited | |
| PMID 30322869 | 2018 | Thrombocytopenia | Heterozygous | P2 (Father of P1) | c.1549T>C | p.W517R | MAF 0.03% | 25.1 | NA | NA | NA | NA | thrombocytopenia | NA | Growth increased | |
| PMID 30046003 | 2018 | Transient monosomy 7 | Heterozygous maternal inheritance | 5A (Proband) | c.3842G>A | p.R1281K | Novel | 14.69 | c.208C>T (p.R70C); c.838G>A (p.A280T); c.1076G>A (p.R359Q); c.3158C>T (p.T1053I); c.3274T>G (p.p.F1092V); c.3511G>A (p.D1171N) | Transient Monosomy 7; UPD7q | NA | NA | Cytopenia | Yes | Growth inhibited | |
| PMID 30046003 | 2018 | Transient monosomy 7 | Heterozygous | 5E (Sibling of 5A) | c.3842G>A | p.R1281K | Novel | 14.69 | c.56T>A (p.V19E); c.1684G>A (p.E562K); 2326dupG (p.E776fs) | Transient monosomy 7 | NA | Yes | Cytopenia | NA | Growth inhibited | |
| PMID 30046003 | 2018 | Transient monosomy 7 | Heterozygous | 5G (Sibling of 5A) | c.3842G>A | p.R1281K | Novel | 14.69 | c.2527C>T (p.R843W); c.1765C>T (p.R589*) | Transient monosomy 7; UPD7q | NA | NA | Cytopenia | NA | Growth inhibited | |
| PMID 30046003 | 2018 | Transient monosomy 7 | Heterozygous | 5H (Sibling of 5A) | c.3842G>A | p.R1281K | Novel | 14.69 | NA | Transient monosomy 7 | NA | NA | Cytopenia | NA | Growth inhibited | |
| PMID 30046003 | 2018 | Transient monosomy 7 | Heterozygous | 4A (Proband) | c.4535T>C | p.V1512A | Novel | 21 | c.2338C>T (p.Q780*) | Transient monosomy 7; UPD (7q11.21-q36.3) | NA | NA | Cytopenia | Yes | Growth inhibited | |
| PMID 30046003 | 2018 | Transient monosomy 7 | Heterozygous | 4B (Sibling of 4A) | c.4535T>C | p.V1512A | Novel | 21 | c.1225delC (p.L409fs) | Transient monosomy 7 | NA | NA | NA | NA | Growth inhibited | |
| PMID 30322869 | 2018 | Transient severe pancytopenia | Heterozygous paternal inheritance | P1 (Proband) | c.1549T>C | p.W517R | MAF 0.03% | 25.1 | NA | Normal | NA | NA | Transient severe pancytopenia | NA | Growth increased | |
| PMID 29146883 | 2018 | Transient thrombocytopenia | Heterozygous | P7 (Father of P6) | c.3442G>C, TERC mutation carrier | p.D1148H | Novel | 21.4 | NA | NA | NA | Transient thrombocytopenia | NA | NA | ||
| PMID 31015479 | 2019 | Ataxia pancytopenia | NA | P1 | c.1076G>A / c.3353A>G | p.R359Q, p.Y1118C | MAF 0.0007% / Novel | 17.52 / 23.6 | NA | NA | NA | NA | NA | NA | NA | |
| PMID 30923096 | 2019 | Ataxia pancytopenia | Heterozygous paternal inheritance | IV-4 | c.4418G>A | p.S1473N | Novel | 20.9 | NA | NA | NA | Yes | Aplastic anemia | NA | Growth inhibited | |
| PMID 30923096 | 2019 | Ataxia pancytopenia / Pediatric ALL | Heterozygous paternal inheritance | IV-1 | c.4418G>A | p.S1473N | Novel | 20.9 | SAMD9L c.1821_1822dupCA (p.S608TfsX6) | NA | Common t(12;21) (ETV6-RUNX1) translocation | NA | Thrombocytopenia; macrocytic anemia | NA | Growth inhibited | |
| PMID 30923096 | 2019 | Cytopenia | Heterozygous paternal inheritance | IV-2 | c.4418G>A | p.S1473N | Novel | 20.9 | SAMD9L c.1382_1385delAAAG (p.E461VfsX43) | UPD7q | NA | Yes | Mild macrocytosis; thrombocytopenia | NA | Growth inhibited | |
| PMID 31053103 | 2019 | Leukoencephalopathy | Heterozygous de novo | P1 | c.2686T>G | p.F896V | Novel | 25 | NA | Normal | NA | Yes | Pancytopenia | NA | NA | |
| PMID 31306780 | 2019 | MDS | Heterozygous de novo | P10 | Blood-2018-99-120250 | c.4651 G>C | p.V1551L | Novel | 14.51 | NA | Monosomy 7 | NA | Yes | Pancytopenia | Yes | Growth inhibited |
| PMID 30923096 | 2019 | Thrombocytopenia | NA | III-1 (Father of IV-1 to 3) | c.4418G>A | p.S1473N | Novel | 20.9 | NA | NA | NA | Yes | Thrombocytopenia | NA | Growth inhibited | |
| PMID 32808377 | 2020 | Ataxia pancytopenia | Heterozygous | P1 | c.2956C>T | p.R986C | Novel | 16.25 | NA | NA | NA | Yes | No | NA | Growth inhibited | |
| PMID 32770553 | 2020 | MDS | Heterozygous | P6 | c.4525A>C | p.S1509R | Novel | 23.5 | c. 3023A>T (p.Lys1008Ile), c. 3540G>A (p.Trp1180*) | Monosomy 7 | NA | No | MDS | NA | Growth inhibited | |
| PMID 32770553 | 2020 | Neutropenia | Heterozygous | P25 | c.4519T>C | p.W1507R | Novel | 25.4 | No | Monosomy 7 | NA | No | Neutropenia | Yes | Growth inhibited | |
| PMID 31874111 | 2020 | SAAD | Heterozygous de novo | P3 | c.2658_2659delTT | p.F886Lfs*11 | Novel | NA | NA | NA | NA | Yes | Anemia; leukocytosis; thrombocytopenia; progressive leukopenia; mild B-cell lymphopenia | Yes | Growth inhibited | |
| PMID 31874111 | 2020 | SAAD | Heterozygous de novo | P4 | c.2658_2659delTT | p.F886Lfs*11 | Novel | NA | NA | NA | NA | Yes | Chronic thrombocytopenia; anemia with reticulocytosis; low NK cells | NA | Growth inhibited | |
| PMID 31874111 | 2020 | SAAD | Heterozygous de novo | P5 | c.2658_2659delTT | p.F886Lfs*11 | Novel | NA | NA | NA | NA | Yes | Anemia; progressive thrombocytopenia; low NK cells; severe B cell aplasia | Yes | Growth inhibited | |
| PMID 31874111 | 2020 | SAAD | Heterozygous de novo | P6 | c.2666delT | p.F889Sfs* | Novel | NA | NA | NA | NA | Yes | Thrombocytopenia; low B-cells; low NK cells; hypogammaglobulinemia | NA | NA | |
| PMID 31874111 | 2020 | SAAD | Heterozygous de novo | P1 | c.2626delA | p.I876Lfs*15 | Novel | NA | NA | NA | NA | Yes | Anemia; myeloid hyperplasia with mild left shift in myeloid maturation; B cell lymphopenia | Yes | NA | |
| PMID 31874111 | 2020 | SAAD | Heterozygous de novo | P2 | c.2633delA | p.K878SfsX12 | Novel | NA | NA | NA | NA | Yes | Anemia; thrombocytopenia | Yes | NA | |
| PMID 32054657 | 2021 | Ataxia pancytopenia | NA | P47 | c.2956C>T | p.R986C | Novel | 16.25 | NA | 46,XY,t(3;21)(q26;q22) | CBL | Yes | Pancytopenia; morphological dysplasia | NA | Growth inhibited | |
| PMID 33884299 | 2021 | Ataxia pancytopenia with MDS | Heterozygous de novo | P1 | c.2956C>T | p.R986C | Novel | 16.25 | NA | Interstitial deletion Chr 7q11.23 to q33 | NA | Yes | MDS | NA | Growth inhibited | |
| PMID 34722875 | 2021 | Ataxia with neuropathy | Heterozygous | P1 | c.2915T>C | p.I972T | Novel | 23.4 | c.3229C>T, c.3456_3458del (p.R1077*, p.L1153del) | Normal | NA | Yes | Normal | No | Growth inhibited | |
| PMID 33724365 | 2021 | B-cell aplasia and autoinflammation | Heterozygous de novo | P1 | c.2658_2659delTT | p.F886Lfs*11 | Novel | NA | NA | NA | NA | Yes | B-cell aplasia; nonimmune thrombocytopenia | Yes | Growth inhibited | |
| PMID 34417303 | 2021 | Leukocytoclastic panniculitis with B-cell lymphopenia | Heterozygous | P2 (Family2) | c.2633delA | p.K878SfsX13 | Novel | NA | NA | NA | NA | Yes | Neutrophilia; anemia; thrombocytopenia; B-cell lymphopenia | Yes | Growth inhibited | |
| PMID 34417303 | 2021 | Leukocytoclastic panniculitis with B-cell lymphopenia | Heterozygous | P1 (Family1) | c.2654delA | p.N885TfsX6 | Novel | NA | NA | NA | NA | Yes | Thrombocytopenia; anemia; panniculitis; B-cell lymphopenia | Yes | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | A102 | c.2483G>A | p.R828Q | MAF 0.001% | 4.58 | No | Normal | No | No | Refractory cytopenia | No | No growth inhibition | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | B052 | c.2957G>A | p.R986H | MAF 0.002% | 26.5 | No | Monosomy 7 | No | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | CZ035 | c.2956C>T | p.R986C | Novel | 21.7 | SAMD9L c.3230G>A (p.R1077Q; cis to germline SAMD9L) | Monosomy 7 | No | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | CZ060 | c.4418G>A | p.S1473N | Novel | 26.7 | No | Monosomy 7 | No | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1095 | c.2069G>A | p.G690D | MAF 0.038% | 25.2 | No | Normal | No | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1127 | c.3346A>C | p.N1116H | Novel | 23.3 | No | Monosomy 7 | No | Yes | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1160 | c.2069G>A | p.G690D | MAF 0.038% | 25.2 | No | Normal | No | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1215 | c.2308A>G | p.K770E | Novel | 16.49 | No | Normal | No | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1248 | c.2957G>A | p.R986H | MAF 0.002% | 26.5 | SAMD9L c.4571G>A (p.R1524H; cis to germline SAMD9L) | Monosomy 7; UPD7q | EZH2 | No | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1267 | c.2069G>A | p.G690D | MAF 0.038% | 25.2 | No | Normal | No | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1297 | c.2675T>G | p.M892R | Novel | 24.6 | No | Monosomy 7; UPD7q | No | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D1300 | c.4046C>T | p.P1349L | Novel | 1.807 | SAMD9L c.768dupT (p.K257X; cis to germline SAMD9L) | Monosomy 7 | RUNX1 | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D171 | c.4537T>C | p.W1513R | Novel | 24.7 | No | Monosomy 7 | No | No | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D339 | c.2488G>T | p.E830X | MAF 0.001% | 35 | No | Normal | No | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D393 | c.215A>G | p.Y72C | Novel | 0.005 | No | Normal | No | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D423 | c.2483G>A | p.R828Q | MAF 0.001% | 4.58 | No | Normal | No | No | Refractory cytopenia | Yes | No growth inhibition | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D570 | c.1909G>A | p.A637T | MAF 0.012% | 20.8 | No | Normal | No | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D743 | c.2956C>T | p.R986C | Novel | 21.7 | SAMD9L c.1765C>T (p.R589X; cis to germline SAMD9L) | Monosomy 7 | No | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D851 | c.2957G>A | p.R986H | MAF 0.002% | 26.5 | SAMD9L c.2085G>C (p.W695C; cis to germline SAMD9L) | Normal | No | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | D991 | c.3843G>T / c.1905G>T | p.R1281S / p.L635F | Novel / Novel | 22.3 / 24.6 | SAMD9L c.2306dupA (p.N769KfsX5; cis to germline SAMD9L) | Monosomy 7 | No | No | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | GR012 | c.4420A>C | p.T1474P | Novel | 23.1 | No | Monosomy 7 | No | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | H005 | c.2675T>G | p.M892R | Novel | 24.6 | No | Monosomy 7; UPD7q | SETBP1 | Yes | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 34621053 | 2021 | MDS low blasts | Heterozygous | I363 | c.505G>C | p.D169H | MAF 0.01% | 24.2 | No | Monosomy 7 | No | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MDS EB | Heterozygous | D927 | c.2627T>C | p.I876T | Novel | 24.9 | SAMD9L c.1360G>A (p.G454R; cis to germline SAMD9L) | Monosomy 7 | ASXL1; CBL; RUNX1; SETBP1 | Yes | MDS with excess blast | Yes | Growth inhibited | |
| PMID 33368157 | 2021 | MDS with low blasts | NA | #25 | c.2957G>A | p.R986H | MAF 0.002% | 24.6 | SAMD9L c.2482C>T (p.Arg828*), c.3178G>T (p.Glu1060*) | Monosomy 7 | NA | NA | MDS/AML predisposition | NA | Growth inhibited | |
| PMID 33368157 | 2021 | MDS with low blasts | NA | #3 | c.2807C>T | p.T936I | Novel | 15.45 | SAMD9L c.1765C>T (p.Arg589*) | 7q-, Monosomy 7 | NA | NA | MDS/AML predisposition | NA | NA | |
| PMID 33368157 | 2021 | MDS with low blasts | NA | #40 | c.4736A>G | p.Y1579C | Novel | 24.5 | NA | NA | NA | NA | MDS/AML predisposition | NA | NA | |
| PMID 34621053 | 2021 | MIRAGE | Heterozygous | CH026 | c.1993A>C | p.T665P | Novel | 9.034 | No | Normal | NA | No | Refractory cytopenia | No | Growth inhibited | |
| PMID 34621053 | 2021 | MIRAGE | Heterozygous | D1285 | c.2308A>G | p.K770E | Novel | 16.49 | SAMD9L c.1765C>T (p.R589X; cis to germline SAMD9L) | Monosomy 7; UPD7q | CBL; KMT2C | Yes | Refractory cytopenia | No | Growth inhibited | |
| PMID 35310830 | 2022 | Aplastic anemia | Heterozygous | P1 | c.3800G>T, FLT3 carrier | p.C1267F | MAF 0.001% | 23.5 | NA | NA | NA | No | Aplastic anemia | NA | NA | |
| PMID 36499545 | 2022 | Aplastic anemia | Heterozygous maternal inheritance | P2 (Family 2, proband) | c.4303T>C | p.W1435R | MAF 0.001% | 29.3 | NA | NA | NA | NA | Aplastic anemia | NA | NA | |
| PMID 34418069 | 2022 | Ataxia with cerebellar atrophy | Heterozygous | P1 (HT102)* | c.2800G>C | p.D934H | Novel | 20.1 | NA | NA | NA | NA | NA | NA | NA | |
| PMID 36054901 | 2022 | Ataxia pancytopenia | Heterozygous | P1 | c.2581C>T | p.L861F | Novel | 25 | NA | No | NA | Yes | Pancytopenia | Yes | NA | |
| PMID 36519557 | 2022 | Ataxia pancytopenia | NA | P1 | c.2062T>A | p.Y688N | Novel | 24.8 | NA | Monosomy 7 | ETV6 | Yes | MDS | No | NA | |
| PMID 36499545 | 2022 | Chronic thrombocytopenia | Heterozygous | P3 (Family 2, mother of P2) | c.4303T>C | p.W1435R | MAF 0.001% | 29.3 | NA | NA | NA | NA | Chronic ITP | NA | NA | |
| PMID 36553623 | 2022 | Neuropathy | Heterozygous | P1 (II-3)* | c.2956C>T | p.R986C | Novel | 21.7 | No | UPD7q | NA | Yes | No | No | Growth inhibited | |
| PMID 36553623 | 2022 | Neuropathy | Heterozygous | P2 (III-1)* | c.2956C>T | p.R986C | Novel | 21.7 | c.3283A>G (p.K1095E) | NA | NA | Yes | Thrombocytopenia | No | Growth inhibited | |
| PMID 34894360 | 2022 | SAAD | NA | P1 | c.2658-2659del | p.F886Lfs*11 | Novel | NA | NA | Normal | NA | Yes | Lymphopenia | Yes | Growth inhibited | |
| PMID 34848396 | 2022 | SAAD | Heterozygous | P1 | c.2626delA | p.I876Lfs*15 | Novel | NA | NA | Normal | NA | No | Cytopenia | No | NA | |
| PMID 35310830 | 2022 | Spinocerebellar ataxia 49 | Heterozygous | P1 (III:7)* | c.1877C>T | p.S626L | Novel | 23.3 | NA | NA | NA | Yes | No | NA | Growth inhibited | |
| PMID 35310830 | 2022 | Spinocerebellar ataxia 49 | Heterozygous | P2 (IV:2)* | c.1877C>T | p.S626L | Novel | 23.3 | NA | NA | NA | Yes | No | NA | Growth inhibited | |
| PMID 35310830 | 2022 | Spinocerebellar ataxia 49 | Heterozygous | P3 (IV:8)* | c.1877C>T | p.S626L | Novel | 23.3 | NA | NA | NA | Yes | No | NA | Growth inhibited | |
| PMID 35310830 | 2022 | Spinocerebellar ataxia 49 | Heterozygous | P4 (IV:14)* | c.1877C>T | p.S626L | Novel | 23.3 | NA | NA | NA | Yes | No | NA | Growth inhibited | |
| PMID 35310830 | 2022 | Spinocerebellar ataxia 49 | Heterozygous | P5 (V:1)* | c.1877C>T | p.S626L | Novel | 23.3 | NA | NA | NA | Yes | No | NA | Growth inhibited | |
| PMID 36730951 | 2023 | MDS | Heterozygous de novo | P2 | c.4519T>C | p.W1507R | Novel | 25.4 | NA | Monosomy 7 | NA | No | Refractory cytopenia | Yes | Growth inhibited | |
| PMID 37357006 | 2023 | MDS EB | Heterozygous de novo | P1 | NA | p.K1532N | Novel | NA | SAMD9L (p.E685del) | Monosomy 7 | RUNX1; WT1; EVI1; PRAME | Yes | Myelodysplasia with excess blasts | Yes | NA |
Abbreviations:
NA: not available; mut: mutation; AML: Acute myeloid leukemia; MDS: Myelodysplasia syndrome; MDS EB: MDS with excess blast; RCC: Refractory cytopenia; RCMD: Refractory cytopenia with multilineage dysplasia; ALL: Acute lymphocytic leukemia; PNP: peripheral polyneuropathy; SAAD: SAMD9L-mediated autoinflammatory disease; P: patient; F: family; UPD: uniparental isodisomy; del: deletion; LCL: lymphoblastoid cell lines; CADD: combined annotation dependent depletion in silico pathogenic scoring; Chr: chromosome; MAF: minor allelic frequency; PB: peripheral blood; BM: bone marrow; NK: natural killer; yrs: years
MDS with low blasts includes RCC and RCMD cases
*Patient or asymptomatic case number as per the respective study