ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) (rs794728087)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181224 SCV000233503 uncertain significance not provided 2014-05-29 criteria provided, single submitter clinical testing p.Ile615Val (ATT>GTT): c.1843 A>G in exon 12 of the DSG2 gene (NM_001943.3). The I615V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The I615V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is class conserved across species with V615 present as wild type in several species. In silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, no missense mutations in nearby residues have been reported in association with ARVC, suggesting this region of the protein may be tolerant of change. Nevertheless, the I615V variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. 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 ARVC panel(s).
Color Health, Inc RCV001190476 SCV001357976 uncertain significance Cardiomyopathy 2019-04-14 criteria provided, single submitter clinical testing

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