ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.158del (p.Ser53fs)

dbSNP: rs587782533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131735 SCV000186776 pathogenic Hereditary cancer-predisposing syndrome 2013-05-21 criteria provided, single submitter clinical testing This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001849944 SCV002138151 pathogenic Fanconi anemia complementation group O 2021-03-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with a family history of ovarian cancer (PMID: 26261251). ClinVar contains an entry for this variant (Variation ID: 142544). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser53Leufs*6) 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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