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
Labcorp Genetics (formerly Invitae), Labcorp RCV000477455 SCV000550180 pathogenic Fanconi anemia complementation group O 2024-09-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the RAD51C gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with breast cancer (PMID: 32427313). ClinVar contains an entry for this variant (Variation ID: 409834). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 35740625; internal data). For these reasons, this variant has been classified as 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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