Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001935277 | SCV002168967 | uncertain significance | Long QT syndrome | 2021-12-17 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (rs780098159, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 287 of the SNTA1 protein (p.Ser287Asn). |
| Ambry Genetics | RCV003167099 | SCV003910283 | uncertain significance | Cardiovascular phenotype | 2023-02-08 | criteria provided, single submitter | clinical testing | The p.S287N variant (also known as c.860G>A), located in coding exon 4 of the SNTA1 gene, results from a G to A substitution at nucleotide position 860. The serine at codon 287 is replaced by asparagine, an amino acid with highly similar 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. |