Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001975779 | SCV002255975 | uncertain significance | Brugada syndrome | 2021-02-14 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with cysteine at codon 955 of the SCN10A protein (p.Ser955Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN10A-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SCN10A protein function. 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. |
| Ambry Genetics | RCV003170269 | SCV003860541 | uncertain significance | Cardiovascular phenotype | 2022-12-18 | criteria provided, single submitter | clinical testing | The p.S955C variant (also known as c.2863A>T), located in coding exon 16 of the SCN10A gene, results from an A to T substitution at nucleotide position 2863. The serine at codon 955 is replaced by cysteine, an amino acid with dissimilar 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. |