ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.1163C>A (p.Ser388Ter) (rs1569002296)

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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 RCV000824701 SCV000965615 likely pathogenic Familial platelet disorder with associated myeloid malignancy 2019-07-29 reviewed by expert panel curation The NM_001754.4:c.1163C>A (p.Ser388Ter) variant is a nonsense variant that is predicted to introduce a premature stop codon and expected to result in nonsense-mediated mRNA decay (PVS1). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). Transactivation assays demonstrate enhanced transactivation (>115% of wt) (PS3_Supporting; PMID: 20846103). This variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_Supporting; PMID: 20846103). 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, PM2, PS3_Supporting, PS4_Supporting.
PreventionGenetics,PreventionGenetics RCV000680383 SCV000807754 likely pathogenic not provided 2018-01-24 criteria provided, single submitter clinical testing

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