Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000217337 | SCV000271725 | uncertain significance | not specified | 2015-05-27 | criteria provided, single submitter | clinical testing | The p.Arg1269Gln variant in DSP has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Arg1269Gln va riant is uncertain. |
| Invitae | RCV000690560 | SCV000818248 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-03-09 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV001190730 | SCV001358312 | uncertain significance | Cardiomyopathy | 2023-12-04 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the central rod domain of the DSP protein that is thought to form a dimeric coiled coil. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on 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. |
| Fulgent Genetics, |
RCV002485384 | SCV002788841 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2021-08-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003298281 | SCV004007805 | uncertain significance | Cardiovascular phenotype | 2023-03-24 | criteria provided, single submitter | clinical testing | The p.R1269Q variant (also known as c.3806G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 3806. The arginine at codon 1269 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |