ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.447A>C (p.Ala149=)

dbSNP: rs1383915216
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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 RCV002264807 SCV002546472 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-07-06 reviewed by expert panel curation NM_001754.5(RUNX1):c.447A>C (p.Ala149=) is a synonymous variant. No REVEL score because a synonymous variant and SpliceAI is ≤0.20 (BP4). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). In summary, this variant meets the criteria to be classified as a variant of Uncertain significance - insufficient evidence. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4 and PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001480592 SCV001684912 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2019-02-28 criteria provided, single submitter clinical testing

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