ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1216del (p.Tyr406fs)

dbSNP: rs2056453972
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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 RCV003448368 SCV004176247 likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-12-09 reviewed by expert panel curation NM_001754.5(RUNX1):c.1216del (p.Tyr406fs) is a frameshift variant predicted to not undergo NMD (PVS1_strong SNV Tree). 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: 29722345, Table 1). 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_strong, PM2_supporting, PS4_supporting.
CeGaT Center for Human Genetics Tuebingen RCV001090978 SCV001246783 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing

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