ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5432A>C (p.Gln1811Pro)

dbSNP: rs80357040
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
Myriad Genetics, Inc. RCV001077393 SCV004933216 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2024-03-08 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30209399]. This variant is expected to disrupt protein structure [Myriad internal data].
Brotman Baty Institute, University of Washington RCV001077393 SCV001243317 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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.