Submissions for variant NM_001943.5(DSG2):c.688G>A (p.Glu230Lys)

dbSNP: rs2510911703

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV003533628	SCV004363169	uncertain significance	Cardiomyopathy	2022-07-12	criteria provided, single submitter	clinical testing	This missense variant replaces glutamic acid with lysine at codon 230 of the DSG2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV004992680	SCV005575756	uncertain significance	Cardiovascular phenotype	2024-06-30	criteria provided, single submitter	clinical testing	The p.E230K variant (also known as c.688G>A), located in coding exon 6 of the DSG2 gene, results from a G to A substitution at nucleotide position 688. The glutamic acid at codon 230 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.