ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) (rs770637624)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165947 SCV000216703 pathogenic Hereditary cancer-predisposing syndrome 2017-11-29 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 RCV000165947 SCV000537645 pathogenic Hereditary cancer-predisposing syndrome 2015-11-06 criteria provided, single submitter clinical testing
Counsyl RCV000576766 SCV000677818 pathogenic Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000484844 SCV000567973 pathogenic not provided 2018-05-02 criteria provided, single submitter clinical testing This pathogenic variant is denoted RAD51C c.709C>T at the cDNA level and p.Arg237Ter (R237X) 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 reported in individuals with prostate and gastric cancer, as well as in at least two families with breast and/or ovarian cancer (Blanco 2014, Pritchard 2016, Sahasrabudhe 2017, Tavera-Tapia 2017). We consider this variant to be pathogenic.
Invitae RCV000233212 SCV000291234 pathogenic Fanconi anemia, complementation group O 2019-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg237*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770637624, ExAC 0.001%). This variant has been reported in an individual affected with thyroid and ovarian cancer, who also has a family history of breast and ovarian cancer (PMID: 25086635). ClinVar contains an entry for this variant (Variation ID: 186364). 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.
Mendelics RCV000709509 SCV000839333 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000484844 SCV000888602 pathogenic not provided 2018-07-12 criteria provided, single submitter clinical testing

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