ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) (rs587781287)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128973 SCV000172859 pathogenic Hereditary cancer-predisposing syndrome 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000128973 SCV000537646 pathogenic Hereditary cancer-predisposing syndrome 2015-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000483841 SCV000566619 pathogenic not provided 2016-12-05 criteria provided, single submitter clinical testing This pathogenic variant is denoted RAD51C c.955C>T at the cDNA level and p.Arg319Ter (R319X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in at least on individual with triple negative breast cancer and four individuals with ovarian cancer, including three with a family history of breast and/or ovarian cancer, and was not observed in 2,772 unaffected controls (Loveday 2012, Couch 2015, Norquist 2015, Song 2015). RAD51C Arg319Ter is considered pathogenic.
Genetic Services Laboratory, University of Chicago RCV000501924 SCV000596689 pathogenic Breast-ovarian cancer, familial 3 2016-12-16 criteria provided, single submitter clinical testing
Invitae RCV000230603 SCV000291256 pathogenic Fanconi anemia, complementation group O 2018-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 319 (p.Arg319*) of 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. This particular variant has been reported in individuals affected with breast and ovarian cancer (PMID: 22538716, 25452441, 26261251). For these reasons, this variant has been classified as Pathogenic.

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