Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001981658 | SCV002221427 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-07-25 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of DSP-related conditions (PMID: 29095814). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 243 of the DSP protein (p.Arg243Cys). ClinVar contains an entry for this variant (Variation ID: 1444113). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV002484735 | SCV002780283 | 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 | 2021-08-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004043671 | SCV005022552 | uncertain significance | Cardiovascular phenotype | 2023-10-07 | criteria provided, single submitter | clinical testing | The p.R243C variant (also known as c.727C>T) is located in coding exon 6 of the DSP gene. The arginine at codon 243 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant impacts the first base pair of coding exon 6. 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. |