ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) (rs1057519748)

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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 RCV000824700 SCV000965612 pathogenic Familial platelet disorder with associated myeloid malignancy 2019-07-29 reviewed by expert panel curation The NM_001754.4:c.601C>T (p.Arg201Ter) 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 has been reported in four probands meeting at least one of the RUNX1-phenotypic criteria (PS4; PMIDs: 10508512; 19387465; 20549580; 28513614). The variant was found to co-segregate with disease in multiple affected family members, with 14 meioses observed in across 4 families (PP1_Strong; PMID: 10508512; 19387465; 20549580; 28513614). The variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). 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, PS4, PP1_Strong, PM2.
Database of Curated Mutations (DoCM) RCV000422235 SCV000504771 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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