ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.339A>C (p.Lys113Asn) (rs786202507)

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 RCV000165351 SCV000216075 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV000165351 SCV000686445 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-24 criteria provided, single submitter clinical testing
Counsyl RCV000409073 SCV000489085 uncertain significance Breast-ovarian cancer, familial 4 2016-08-15 criteria provided, single submitter clinical testing
Invitae RCV000409073 SCV000551355 uncertain significance Breast-ovarian cancer, familial 4 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 113 of the RAD51D protein (p.Lys113Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 185853). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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.