ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.593A>T (p.Asp198Val) (rs1569061786)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV001078215 SCV001244324 likely pathogenic Familial platelet disorder with associated myeloid malignancy 2019-08-18 reviewed by expert panel curation The NM_001754.4:c.593A>T (p.Asp198Val) variant affects one of the 13 hotspot residues established by the MM-VCEP for RUNX1 (PM1). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). This missense variant has a REVEL score >0.75 (0.959) (PP3). This variant has been reported in two probands meeting at least one of the RUNX1-phenotypic criteria (PS4_ moderate; PMID: 27479822 and internal laboratory data). In summary, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM1, PM2, PS4_moderate, PP3.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852167 SCV000899823 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
Birmingham Platelet Group; University of Birmingham RCV001270576 SCV001450875 likely pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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