ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter)

dbSNP: rs1569078784
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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 RCV002264732 SCV002546383 likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-01-22 reviewed by expert panel curation This variant NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) is a nonsense variant predicted to undergo NMD (PVS1). 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 likely pathogenic. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PVS1 and PM2_supporting.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851806 SCV000899774 likely pathogenic Pancytopenia 2019-02-01 criteria provided, single submitter research
Molecular Genetic Pathology Unit, University Of Rochester Medical Center RCV003153243 SCV003840279 pathogenic Clonal Cytopenia of Undetermined Significance no assertion criteria provided clinical testing

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