ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr) (rs876657745)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214504 SCV000271518 uncertain significance not specified 2015-08-10 criteria provided, single submitter clinical testing The p.Cys373Tyr variant in BAG3 has been identified by our laboratory in 2 Cauca sian adults with DCM and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may not im pact the protein, though this information is not predictive enough to rule out p athogenicity. In summary, the clinical significance of the p.Cys373Tyr variant is uncertain.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000622634 SCV000740458 uncertain significance Familial dilated cardiomyopathy 2017-01-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788870 SCV000928143 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing

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.