ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.612del (p.Leu205fs)

dbSNP: rs2143797889
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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 RCV001385785 SCV001585748 pathogenic Fanconi anemia complementation group O 2024-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu205Phefs*34) 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). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1072935). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003463007 SCV004208053 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2021-10-26 criteria provided, single submitter clinical testing

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