ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.554A>C (p.Gln185Pro)

dbSNP: rs1569061888
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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 RCV004692073 SCV005196472 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-12 reviewed by expert panel curation NM_001754.5(RUNX1):c.554A>C (p.Gln185Pro) is a missense variant which is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). This variant has a REVEL score >0.75 (0.977) (PP3). This missense variant is located within the Runt Homology Domain (AA 105-204), but does not occur in an established hotspot residue (PM1_supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting, PP3, PM1_supporting.
PreventionGenetics, part of Exact Sciences RCV000680420 SCV000807791 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing

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