ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs)

dbSNP: rs1569078774
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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 RCV001290692 SCV001478829 pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-03-26 reviewed by expert panel curation This frameshift duplication, located in a critical protein domain of an exon present in all biologically-relevant transcripts, is predicted to undergo NMD (PVS1). This variant is a nonsense/frameshift variants that is downstream of c.98 (PM5_Supporting). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_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, PM5_supporting.
PreventionGenetics, part of Exact Sciences RCV000680416 SCV000807787 likely pathogenic not provided 2018-07-12 criteria provided, single submitter clinical testing

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