ClinVar Miner

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

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 RCV004595545 SCV005088390 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation NM_001754.5(RUNX1):c.300C>T (p.Ser100=) is a synonymous variant that is not predicted to impact splicing. Since it is a synonymous variant, there is no REVEL score, and SpliceAI is ≤ 0.20 (0.01 33bp Donor Gain) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score -0.302402 < 2.0 or the variant is the reference nucleotide in one primate and/or three mammal species) (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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000878545 SCV001021466 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-04-29 criteria provided, single submitter clinical testing

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