ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.386dup (p.Val130fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003228178 SCV003924238 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia 2022-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop codon 8 amino acids downstream from this location which results in an absent or abnormal protein; loss of function variants are a known mechanism of disease for this gene (Luo 2019 PMID:31648317). In summary, this variant is classified as pathogenic.

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