ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1015A>G (p.Ile339Val) (rs757353917)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221447 SCV000271517 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing The p.Ile339Val variant in BAG3 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/8646 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis do not provide strong suppor t for or against an impact to the protein, though one species (American alligato r) carries a valine (Val) at this position, raising the possibility that this ch ange may be tolerated. In summary, the clinical significance of the p.Ile339Val variant is uncertain.

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