ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) (rs201529791)

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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 RCV000220889 SCV000276777 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000220889 SCV000691258 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-16 criteria provided, single submitter clinical testing
Invitae RCV000475356 SCV000550177 uncertain significance Fanconi anemia, complementation group O 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 219 of the RAD51C protein (p.Leu219Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs201529791, ExAC 0.009%). This variant has been reported in an individuals affected with ovarian and breast cancer (PMID: 22451500, 25086635). ClinVar contains an entry for this variant (Variation ID: 232604). Experimental studies have shown that this missense change reduces RAD51 foci formation and homologous recombination repair activity in functional complementation assays (PMID: 25292178, 22451500). 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.
Mendelics RCV000709507 SCV000839331 likely pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759334 SCV000888599 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing

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