ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter)

dbSNP: rs121912499
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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 RCV003448344 SCV004176272 pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-12-09 reviewed by expert panel curation NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter) is a nonsense variant which affects all biologically relevant isoforms. This variant is a nonsense variant between c.98 - c.916, ranking at PVS1 according to the RUNX1 decision tree (PVS1). This variant was found to co-segregate with disease in 3 affected family members (PMID: 11830488, Pedigree 3) (PP1). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). 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, PP1, PM2_supporting, PM5_supporting.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851904 SCV000899969 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research

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