ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.883C>G (p.Leu295Val) (rs752910287)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561823 SCV000663815 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000561823 SCV000904084 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000484734 SCV000567475 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.883C>G at the cDNA level, p.Leu295Val (L295V) at the protein level, and results in the change of a Leucine to a Valine (CTG>GTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51D Leu295Val was not observed at a significant allele frequency in large population cohorts (Lek 2016). RAD51D Leu295Val is located in the ATPase domain (Miller 2004). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available information, it is unclear whether RAD51D Leu295Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000476276 SCV000551362 uncertain significance Breast-ovarian cancer, familial 4 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 295 of the RAD51D protein (p.Leu295Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs752910287, ExAC 0.002%). This variant has not been reported in the literature in individuals with a RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 410562). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on RAD51D function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.