ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.513A>G (p.Lys171=)

dbSNP: rs2146236928
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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 RCV004692689 SCV005196443 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-12 reviewed by expert panel curation NM_001754.5(RUNX1):c.513A>G (p.Lys171=) is a synonymous variant with a SpliceAI Δ score ≤ 0.20 (0.00) (BP4). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_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: BP4, PM2_Supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001478969 SCV001683249 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-07-29 criteria provided, single submitter clinical testing

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