ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.747T>A (p.Pro249=)

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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 RCV004719404 SCV005326458 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-09-18 reviewed by expert panel curation NM_001754.5(RUNX1):c.747T>A (p.Pro249=) is a synonymous variant which has a SpliceAI score ≤ 0.20 (0.01) (BP4). This variant has a SpliceAI score ≤ 0.20 (0.01) and evolutionary conservation algorithms predict the site as being not conserved (PhyloP score ≤ 2.0 (1.17) (BP7). 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.
PreventionGenetics, part of Exact Sciences RCV003934327 SCV004753719 likely benign RUNX1-related disorder 2019-10-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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