ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.905-2A>G (rs779582317)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575723 SCV000663783 pathogenic Hereditary cancer-predisposing syndrome 2016-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation
GeneDx RCV000236382 SCV000293251 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing This variant is denoted RAD51C c.905-2A>G or IVS6-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 6 of the RAD51C gene. This variant has been reported in at least one individual with ovarian cancer, and splicing assays have demonstrated that this variant results in skipping of exon 7 and introduction of a frameshift (Coulet 2013). Based on currently available evidence, we consider this variant to be pathogenic.
GeneKor MSA RCV000575723 SCV000821779 pathogenic Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000473356 SCV000550188 pathogenic Fanconi anemia, complementation group O 2016-11-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the RAD51C gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic. This particular variant has been reported in the literature in one family affected with ovarian cancer and lower abdominal tumors (PMID: 22725699). Experimental studies have shown that this variant causes a splicing defect leading to exon 7 skipping (PMID: 22725699). For these reasons, this variant has been classified as Pathogenic.

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