ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1118G>A (p.Cys373Tyr) (rs876657745)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788870 SCV000928143 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing
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

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