ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2155G>A (p.Glu719Lys) (rs794728089)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181229 SCV000233508 uncertain significance not provided 2014-07-02 criteria provided, single submitter clinical testing Glu719Lys (GAA>AAA): c.2155 G>A in exon 14 of the DSG2 gene (NM_001943.3). The E719K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E719K variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E719K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Mutations in nearby residues have not been reported in association with cardiomyopathy, indicating this region of the protein may tolerate change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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