ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.231C>T (p.Ser77=)

gnomAD frequency: 0.00001  dbSNP: rs1329847140
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004595568 SCV005088251 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation NM_001754.5(RUNX1):c.231C>T (p.Ser77=) is a synonymous variant which has a MAF of 0.00001 (0.001%, 108718/243164, 1 allele) in the European (Non-Finnish) subpopulations of the gnomAD cohort, which is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). No splicing impact or creation of cryptic splice sites is predicted by SSF and MES. SpliceAI predicts no impact to splicing (score: 0.00) (BP4). This variant was reported in ClinVar in 2022 by Invitae, but the affected status of the proband is unknown (Variation ID 861921). 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: BS1, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001068542 SCV001233659 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-08-31 criteria provided, single submitter clinical testing
GeneDx RCV004777964 SCV005388909 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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