ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter)

dbSNP: rs1233795152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385802 SCV001585766 pathogenic Fanconi anemia complementation group O 2020-10-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RAD51C-related conditions. This sequence change creates a premature translational stop signal (p.Leu134*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917).
Myriad Genetics, Inc. RCV004037676 SCV004933403 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2024-01-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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