Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000394321 | SCV000464886 | uncertain significance | Lethal acantholytic epidermolysis bullosa | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000297782 | SCV000464887 | uncertain significance | Woolly hair-skin fragility syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000357218 | SCV000464888 | uncertain significance | Epidermolysis bullosa simplex due to plakophilin deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000262316 | SCV000464889 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000477531 | SCV000543232 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618799 | SCV000734905 | uncertain significance | Cardiovascular phenotype | 2023-06-13 | criteria provided, single submitter | clinical testing | The p.R490H variant (also known as c.1469G>A), located in coding exon 12 of the DSP gene, results from a G to A substitution at nucleotide position 1469. The arginine at codon 490 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV001184739 | SCV001350785 | uncertain significance | Cardiomyopathy | 2023-11-01 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with histidine at codon 490 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 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 been identified in 9/251436 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. |
All of Us Research Program, |
RCV003995892 | SCV004815910 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2023-11-20 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with histidine at codon 490 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 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 been identified in 9/251436 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. |