ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn)

dbSNP: rs1569061799
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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 RCV003448334 SCV004176252 likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-12-09 reviewed by expert panel curation The c.582A>C (p.Lys194Asn) variant affects one of the hotspot residues within the Runt homology domain established by the MM-VCEP for RUNX1 (PM1). This variant is completely absent from all population databases (gnomAD v2.1.1 and v3) with at least 20x coverage for RUNX1 (PM2). This missense variant has a REVEL score of 0.826 that is >0.75 (PP3). This variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_ Supporting; PMIDs: 27210295, 28659335, 31309983). 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: PM1, PM2, PP3, PS4_Supporting.
PreventionGenetics, part of Exact Sciences RCV000680423 SCV000807794 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing

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