Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001178245 | SCV001342635 | uncertain significance | Cardiomyopathy | 2023-05-25 | criteria provided, single submitter | clinical testing | This missense variant replaces lysine with glutamic acid at codon 36 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSG2-related disorders in the literature. This variant has been identified in 1/249456 chromosomes 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 | RCV002411676 | SCV002721296 | uncertain significance | Cardiovascular phenotype | 2021-03-02 | criteria provided, single submitter | clinical testing | The p.K36E variant (also known as c.106A>G), located in coding exon 3 of the DSG2 gene, results from an A to G substitution at nucleotide position 106. The lysine at codon 36 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamic acid is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |