ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.965+1G>A (rs730881933)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160926 SCV000211630 likely pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing This variant is denoted RAD51C c.965+1G>A or IVS7+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 7 of the RAD51C gene. The variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been observed in an individual with breast cancer (Susswein 2016). Based on the current evidence, we consider RAD51C c.965+1G>A to be likely pathogenic.
Invitae RCV000698614 SCV000827290 likely pathogenic Fanconi anemia, complementation group O 2018-11-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 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 been observed in an individual affected with breast cancer (PMID: 26681312). ClinVar contains an entry for this variant (Variation ID: 182838). 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.

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