ClinVar Miner

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

dbSNP: rs587782036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477455 SCV000550180 likely pathogenic Fanconi anemia complementation group O 2023-02-09 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. Variants that disrupt the donor or acceptor splice site 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 409834). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV003463922 SCV004208044 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2022-03-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003463922 SCV004932455 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2024-01-02 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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