ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV001078212 SCV001244321 likely pathogenic Familial platelet disorder with associated myeloid malignancy 2020-01-14 reviewed by expert panel curation The NM_001754.4:c.506G>T (p.Arg169Ile) variant affects one of the 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). It was found to co-segregate with disease in multiple affected family members, with four meioses observed in one family (PP1; from internal laboratory data). This missense variant has a REVEL score >0.75 (0.939) (PP3). This variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_ Supporting; from internal laboratory data). In summary, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM1, PM2, PP1, PP3, PS4_Supporting.

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