ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.637del (p.Gln213fs)

dbSNP: rs2146076947
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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 RCV001982958 SCV004176245 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-12-09 reviewed by expert panel curation PVS1: frameshift variant (-1) between c.98-758. PM2_supporting: This variant is completely absent from all population databases with at least 20x coverage for RUNX1. PS4_Supporting: This variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_ Supporting; PMID: 34166225). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001982958 SCV002238059 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-11-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RUNX1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln213Argfs*24) in the RUNX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RUNX1 are known to be pathogenic (PMID: 18723428, 24100448).

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