ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.49G>C (p.Gly17Arg) (rs727502895)

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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 RCV000150172 SCV000197081 uncertain significance not specified 2013-09-24 criteria provided, single submitter clinical testing The Gly17Arg variant in BAG3 has not been previously reported in individuals wit h cardiomyopathy. Data from large population studies is insufficient to assess t he frequency of this variant. Computational analyses (biochemical amino acid pro perties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the cl inical significance of this variant.

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