ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.172C>T (p.Leu58=)

dbSNP: rs2146413221
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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 RCV004595606 SCV005088335 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-07-11 reviewed by expert panel curation NM_001754.5(RUNX1):c.172C>T (p.Leu58=) is a synonymous variant predicted by SpliceAI not to impact splicing (BP4). However, an evolutionary conservation algorithm predicts the site as conserved (PhyloP score = 5.77813 in GRCh38), and the variant is not the reference nucleotide in one primate and/or three mammal species (BP7 not met). It is absent from gnomAD v2 and v3 (PM2_Supporting) and has not been reported in cases or the literature. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel: BP4, PM2_Supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001461829 SCV001665738 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2020-08-02 criteria provided, single submitter clinical testing

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