ClinVar Miner

Submissions for variant NC_000017.11:g.(?_58709853)_(58709996_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648291 SCV000770105 likely pathogenic Fanconi anemia complementation group O 2018-02-14 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 5 of the RAD51C gene. It preserves the integrity of the reading frame. A deletion of exon 5 of the RAD51C gene has been reported in an individual who was referred for cancer gene panel testing, and an individual affected with breast cancer (PMID: 26681312, Invitae). This deletion removes the highly conserved Walker B ATPase domain of the RAD51C protein (PMID: 14704354). Moreover, a missense substitution at codon 258 (p.Arg258His) in exon 5 has been reported in individuals affected with breast and/or ovarian cancer, and shown to disrupt the RAD51C protein function in the repair of DNA replication-associated double-stranded breaks (PMID: 20400963, 22167183, 26354865). This suggests that deletion of exon 5 may also be pathogenic. 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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