Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802925 | SCV000942775 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183265 | SCV001348949 | uncertain significance | Cardiomyopathy | 2023-03-16 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with serine at codon 1102 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 cardiovascular disorders in the literature. This variant has been identified in 13/282036 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. |
Phosphorus, |
RCV001823745 | SCV002073418 | uncertain significance | not specified | 2022-01-18 | criteria provided, single submitter | clinical testing | This missense variant results in an amino acid substitution of Glycine with Serine at codon 1102 of the DSP gene (transcript: NM_004415.2). This variant has an entry in ClinVar (648241) NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser). This variant occurred in gnomAD with a total MAF of 0.0041% and with the highest MAF of 0.0009% in the European population. This position is conserved. In silico functional algorithms predict this variant to be benign (PolyPhen) and tolerated (SIFT). However, no functional studies were performed to confirm either of those predictions. The variant has not occurred in the literature in association with the disease. Considering that this is a rare variant and the available evidence is not enough to ascertain its role in disease, it has been classified as Variant of Uncertain Significance. |
Ambry Genetics | RCV002325551 | SCV002605640 | uncertain significance | Cardiovascular phenotype | 2023-08-15 | criteria provided, single submitter | clinical testing | The p.G1102S variant (also known as c.3304G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 3304. The glycine at codon 1102 is replaced by serine, 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. |
Fulgent Genetics, |
RCV002477839 | SCV002777744 | 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 | 2022-02-11 | criteria provided, single submitter | clinical testing |