Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001185138 | SCV001351292 | uncertain significance | Cardiomyopathy | 2019-06-17 | criteria provided, single submitter | clinical testing | This missense variant replaces isoleucine with methionine at codon 101 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 has been identified in 1/249182 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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 | RCV002447010 | SCV002753479 | uncertain significance | Cardiovascular phenotype | 2020-09-29 | criteria provided, single submitter | clinical testing | The p.I101M variant (also known as c.303A>G), located in coding exon 4 of the DSG2 gene, results from an A to G substitution at nucleotide position 303. The isoleucine at codon 101 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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. |