ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1035G>C (p.Glu345Asp) (rs1057522401)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430071 SCV000527539 uncertain significance not provided 2016-05-06 criteria provided, single submitter clinical testing A novel variant of uncertain significance has been identified in the BAG3 gene. The E345D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E345D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, the E345D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, this substitution occurs at a position where amino acids with similar properties to Glutamic acid are tolerated across species, and Aspartic acid is tolerated at this position in two mammalian species. Consequently, in silico analysis predicts this variant likely does not alter the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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