ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.670C>A (p.Arg224=)

dbSNP: rs2057114397
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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 RCV002264797 SCV002546471 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2025-01-15 reviewed by expert panel curation NM_001754.5(RUNX1):c.670C>A (p.Arg224=) is a synonymous variant. SpliceAI doesn't predict any significant splicing impact (Δ scores ≤ 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. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001422262 SCV001624805 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-08-23 criteria provided, single submitter clinical testing

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