ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.392A>T (p.Lys131Ile)

dbSNP: rs762761380
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822638 SCV000963448 uncertain significance Fanconi anemia complementation group O 2018-07-14 criteria provided, single submitter clinical testing 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 and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with RAD51C-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with isoleucine at codon 131 of the RAD51C protein (p.Lys131Ile). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and isoleucine.
Myriad Genetics, Inc. RCV004029111 SCV004931340 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2024-02-09 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 37253112]. This variant is expected to disrupt protein structure [Myriad internal data].

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.