ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.59-4T>C

dbSNP: rs2058096530
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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 RCV004700669 SCV005205665 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-28 reviewed by expert panel curation NM_001754.5(RUNX1):c.59-4T>C is an intronic variant which is not predicted by SpliceAI to impact splicing (BP4). Additionally, an evolutionary conservation algorithm predicts the site as not being highly conserved (PhyloP score = 0.867551 in GRCh38) (BP7). Although the variant is absent from gnomAD v2, v3, and v4 (PM2_Supporting), it has not been reported in cases or the literature. In summary, this variant meets the criteria to be classified as likely benign for hereditary thrombocytopenia and hematologic cancer predisposition syndrome. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy VCEP: BP4, BP7, and PM2_Supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV002160827 SCV002470128 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-11-12 criteria provided, single submitter clinical testing

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