ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.55C>A (p.Arg19Ser) (rs727502896)

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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 RCV000150173 SCV000197082 uncertain significance not specified 2013-12-26 criteria provided, single submitter clinical testing The Arg19Ser variant in BAG3 has not been reported in individuals with cardiomyo pathy and data from large population studies is insufficient to assess the frequ ency of this variant. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg19Ser 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 the Arg19Ser variant.

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