ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.704dup (p.Val236fs)

dbSNP: rs1567794476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge RCV001779205 SCV001623540 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2021-05-03 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV001882538 SCV002177143 pathogenic Fanconi anemia complementation group O 2021-11-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 22538716). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val236Glyfs*16) 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).

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