ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.405-1G>C (rs587782036)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130492 SCV000185361 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-15 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000204135 SCV000259320 likely pathogenic Fanconi anemia, complementation group O 2019-08-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the RAD51C gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 141823). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000576619 SCV000677803 likely pathogenic Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 2016-11-28 criteria provided, single submitter clinical testing

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