ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.826C>T (p.Arg276Trp) (rs759573189)

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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 RCV000223628 SCV000271523 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing The p.Arg276Trp variant in BAG3 has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/16486 South Asian chromosomes in one homozygous individual by the Exome Aggregation Consortium (http://exac.br oadinstitute.org). Computational prediction tools and conservation analyses do n ot provide strong support for or against an impact to the protein. In summary, a dditional information is needed to fully assess the clinical significance of thi s variant.

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