ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter)

dbSNP: rs2057998110
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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 RCV002264772 SCV002546413 pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-01-22 reviewed by expert panel curation The NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter) variant is a nonsense 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). The variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_Supporting; PMID: 24100448). 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 and PS4_Supporting.
Birmingham Platelet Group; University of Birmingham RCV001270532 SCV001450831 pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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