ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.400T>A (p.Ser134Thr) (rs375257731)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471391 SCV000561205 likely benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-08-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150177 SCV000197089 uncertain significance not specified 2013-04-09 criteria provided, single submitter clinical testing The Ser134Thr variant in BAG3 has not been reported in the literature nor previo usly identified by our laboratory. This variant has also not been identified in large European American and African American populations by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS), though it may be present in o ther populations. Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not imp act the protein, though this information is not predictive enough to rule out pa thogenicity. At this time, additional studies are needed to fully assess the cli nical significance of this variant.

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