ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.249C>T (p.Ala83=)

dbSNP: rs751280667
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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 RCV002264811 SCV002546463 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-04-25 reviewed by expert panel curation NM_001754.5(RUNX1):c.249C>T (p.Ala83=) is a synonymous variant. REVEL score not calculable. SpliceAI predicts: Acceptor loss 0.00, Donor loss 0.00, Acceptor gain 0.00, Donor gain 0.00. (BP4) Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 0.324528 < 2.0 or the variant is the reference nucleotide in one primate and/or three mammal species) (BP7). PM2_supporting: This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7, PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001494590 SCV001699250 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-02-20 criteria provided, single submitter clinical testing

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