ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1274T>A (p.Val425Glu) (rs727502901)

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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 RCV000150186 SCV000197106 uncertain significance not specified 2014-02-27 criteria provided, single submitter clinical testing The Val425Glu variant in BAG3 has not been reported in individuals with cardiomy opathy and data from large population studies is insufficient to assess the freq uency of this variant. Computational analyses (biochemical amino acid properties , conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support fo r or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Val425Glu variant.

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