ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg) (rs878855178)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231632 SCV000291222 uncertain significance Fanconi anemia, complementation group O 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 135 of the RAD51C protein (p.Cys135Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 28864920). ClinVar contains an entry for this variant (Variation ID: 241771). This variant has been reported to affect RAD51C protein function (PMID: 28864920). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000582369 SCV000691232 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582369 SCV001183385 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing Insufficient evidence

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