ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1014G>A (p.Ala338=)

gnomAD frequency: 0.00001  dbSNP: rs2056460323
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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 RCV002264798 SCV002546412 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-03-17 reviewed by expert panel curation NM_001754.5(RUNX1):c.1014G>A (p.Ala338=) is a synonymous variant that has a SpliceAI score of 0.00 (≤0.20) and no REVEL score applicable. Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score -0.33< 2.0). 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 and BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001431818 SCV001634579 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-09-06 criteria provided, single submitter clinical testing

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