Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001945461 | SCV002188139 | uncertain significance | Long QT syndrome | 2023-03-07 | criteria provided, single submitter | clinical testing | 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. This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 256 of the SNTA1 protein (p.Ser256Cys). This variant is present in population databases (rs192115867, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1415086). 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 SNTA1 protein function. |
| Ambry Genetics | RCV003303385 | SCV004000396 | uncertain significance | Cardiovascular phenotype | 2023-04-11 | criteria provided, single submitter | clinical testing | The p.S256C variant (also known as c.766A>T), located in coding exon 4 of the SNTA1 gene, results from an A to T substitution at nucleotide position 766. The serine at codon 256 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. |