ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)

dbSNP: rs1567785888
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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 RCV001043378 SCV001207121 pathogenic Fanconi anemia complementation group O 2019-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This variant has been observed in an individual affected with ovarian cancer (PMID: 24800917). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys68*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003455176 SCV004189802 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2023-08-22 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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