ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.770A>G (p.Gln257Arg) (rs765118809)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483702 SCV000569736 uncertain significance not provided 2016-03-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSG2 gene. The Q257R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q257R variant was not observed in approximately 6,000 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 Q257R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties, and this substitution occurs at a position that is conserved in mammals. Consequently, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Color Health, Inc RCV001191862 SCV001359778 uncertain significance Cardiomyopathy 2019-09-15 criteria provided, single submitter clinical testing

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