Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001175934 | SCV001339745 | uncertain significance | Cardiomyopathy | 2023-06-21 | criteria provided, single submitter | clinical testing | This missense variant replaces lysine with glutamic acid at codon 859 of the DSP 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 DSP-related 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 | RCV002429794 | SCV002740319 | uncertain significance | Cardiovascular phenotype | 2022-03-11 | criteria provided, single submitter | clinical testing | The p.K859E variant (also known as c.2575A>G), located in coding exon 18 of the DSP gene, results from an A to G substitution at nucleotide position 2575. The lysine at codon 859 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well 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. |