ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1089C>T (p.Gly363=)

dbSNP: rs2056458294
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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 RCV004699614 SCV005205671 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-28 reviewed by expert panel curation NM_001754.5(RUNX1):c.1089C>T (p.Gly363=) is a synonymous variant. This variant is completely absent from all population databases with at least 20x coverage for RUNX1 in gnomAD v2.1.1 and v3.1.2 (PM2_supporting). This synonymous variant has a SpliceAI score ≤ 0.20 (0.0) (BP4). Evolutionary conservation algorithms predict the site as not being conserved (PhyloP score 1.49391 < 2.0) (BP7). This variant was reported in ClinVar in 2021 by Invitae, but the affected status of the proband is unknown (Variation ID 1486967). 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 RCV002006110 SCV002269022 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-02-17 criteria provided, single submitter clinical testing

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