ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) (rs587781490)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129454 SCV000184224 pathogenic Hereditary cancer-predisposing syndrome 2015-01-22 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)
GeneDx RCV000212939 SCV000211633 pathogenic not provided 2016-04-12 criteria provided, single submitter clinical testing This pathogenic variant is denoted RAD51C c.502A>T at the cDNA level and p.Arg168Ter (R168X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (AGA>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 three breast cancer cases, one of which was mosaic (Lhota 2016, Yablonski-Peretz 2016), and is considered pathogenic.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785447 SCV000924019 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000648252 SCV000770066 pathogenic Fanconi anemia, complementation group O 2018-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg168*) 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 been reported in individuals affected with breast cancer (PMID: 26687385, 26822949). ClinVar contains an entry for this variant (Variation ID: 141095). 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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