ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.675del (p.Leu226fs)

dbSNP: rs2048274544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047371 SCV001211323 pathogenic Fanconi anemia complementation group O 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu226Phefs*13) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51C-related conditions. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). For these reasons, this variant has been classified as Pathogenic.

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