ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.29C>T (p.Pro10Leu) (rs759505297)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571598 SCV000671929 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-11 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 evidence
Color RCV000571598 SCV000686442 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-20 criteria provided, single submitter clinical testing
Invitae RCV000550362 SCV000651729 uncertain significance Breast-ovarian cancer, familial 4 2017-10-05 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 10 of the RAD51D protein (p.Pro10Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs759505297, ExAC 0.05%). This variant has not been reported in the literature in individuals with RAD51D-related disease. 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, the available evidence is currently insufficient to determine the role of this variant 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.