ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter)

dbSNP: rs1569061831
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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 RCV001376067 SCV001573090 pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-03-26 reviewed by expert panel curation The c.567C>G (Tyr189Ter) variant is a nonsense variant that is predicted to introduce a premature stop codon in exon 5/8 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 has been reported in one proband meeting at least one of the RUNX1- phenotypic criteria (PS4_ Supporting; PMID: 31309983). This variant is a nonsense/frameshift variants that is downstream of c.98 (PM5_Supporting). 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, PS4_Supporting, PM5_supporting.
PreventionGenetics, part of Exact Sciences RCV000680421 SCV000807792 pathogenic not provided 2018-07-12 criteria provided, single submitter clinical testing

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