ClinVar Miner

Submissions for variant NM_058216.1(RAD51C):c.966-?_1026+?del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205319 SCV000260200 pathogenic Fanconi anemia complementation group O 2016-07-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 8 of the RAD51C gene. This deletion is expected to create a premature translational stop signal in the last exon. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated RAD51C protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD51C-related disease. This variant is expected to cause the loss or disruption of 55 C-terminal amino acid residues from the RAD51C protein. While the effect of this particular sequence change on RAD51C function has not been tested, the C-terminal region of RAD51C is known to contain a nuclear localization signal, and the deletion of 11 C-terminal residues leads to cellular mislocalization of the protein, as well as reduced MMC resistance compared to the wild-type protein (PMID: 12966089). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.