ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.2052A>C (p.Glu684Asp)

dbSNP: rs1792278396
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227762 SCV002506867 uncertain significance Monosomy 7 myelodysplasia and leukemia syndrome 1; Ataxia-pancytopenia syndrome 2021-07-02 criteria provided, single submitter clinical testing The heterozygous c.2052A>C (p.Glu684Asp) missense variant identified in the SAMD9L gene has not been reported in affected individuals in the literature. The variant is absent from gnomAD(v3) database suggesting it is not a common benign variant in the populations represented in that database. The variant affects a conserved residue and is predicted deleterious by multiple in silico prediction tools. Based on the available evidence, the heterozygous c.2052A>C(p.Glu684Asp) missense variant identified in the SAMD9L gene is reported as a variant of uncertain significance.

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