ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.300C>G (p.Ser100=)

gnomAD frequency: 0.00001  dbSNP: rs764387069
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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 RCV002264709 SCV002546371 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-07-07 reviewed by expert panel curation NM_001754.5(RUNX1):c.300C>G (p.Ser100=) is a synonymous variant. In summary, this variant meets the criteria to be classified as likely benign. Therefore, a REVEL score is not calculable. SpliceAI prediction suggests Acceptor loss 0, Donor loss 0, Acceptor gain 0, Donor gain 0. Therefore, there appears to be no effect on splicing (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score -0.302402 < 2.0)(BP7 ). This variant is completely absent from all population databases with at least 20x coverage for RUNX1(PM2_supporting). 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 RCV000542613 SCV000638139 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-10-20 criteria provided, single submitter clinical testing

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