Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001524456 | SCV001734304 | uncertain significance | Cardiomyopathy | 2024-03-07 | criteria provided, single submitter | clinical testing | This missense variant replaces serine with proline at codon 53 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 3/195022 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. |
| Labcorp Genetics |
RCV002568783 | SCV002960782 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-12-05 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV005330885 | SCV005995689 | uncertain significance | Cardiovascular phenotype | 2025-01-24 | criteria provided, single submitter | clinical testing | The p.S53P variant (also known as c.157T>C), located in coding exon 1 of the DSP gene, results from a T to C substitution at nucleotide position 157. The serine at codon 53 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |