ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.501del (p.Ser167fs)

dbSNP: rs1569078799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV001195661 SCV001366057 pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-03-26 reviewed by expert panel curation The NM_001754.4:c.501del (p.Ser167fs) variant is a frameshift variant that is predicted to introduce a premature stop codon and expected to result in nonsense-mediated mRNA decay (PVS1). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). This variant is a nonsense/frameshift variants that is downstream of c.98 (PM5_Supporting). The variant has not been reported in patients with familial platelet disorder with predisposition to hematologic malignancies in the literature, to the best of our knowledge; however one unpublished proband meeting at least one of the RUNX1 phenotype criteria is noted (PS4_Supporting; SCV000807785.1). In summary, this variant meets criteria to be classified as pathogenic. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PVS1, PM2_supporting, PM5_supporting, PS4_Supporting.
PreventionGenetics, part of Exact Sciences RCV000680414 SCV000807785 likely pathogenic not provided 2018-04-18 criteria provided, single submitter clinical testing

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