ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro) (rs866344768)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485957 SCV000574397 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSG2 gene. The T865P variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T865P 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. However, this substitution occurs at a position that is not conserved across species and where proline is the wild type in several species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.
Color Health, Inc RCV000772022 SCV000904978 uncertain significance Cardiomyopathy 2018-10-28 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the cytoplasmic domain of the DSG2 protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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