ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.358dup (p.Thr120fs)

dbSNP: rs2143725868
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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 RCV002000168 SCV002228934 pathogenic Fanconi anemia complementation group O 2021-09-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr120Asnfs*35) 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. RCV004044356 SCV004933702 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 frameshift predicted to result in premature protein truncation.

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