ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs)

dbSNP: rs1567782936
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687163 SCV000814715 pathogenic Fanconi anemia complementation group O 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val25Phefs*2) 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, 29278735). This variant is not present in population databases (gnomAD no frequency). A similar premature translational stop signal beginning at this codon has been observed in individual(s) with ovarian cancer (PMID: 21990120). For these reasons, this variant has been classified as Pathogenic.

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