Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002049089 | SCV002311936 | uncertain significance | Long QT syndrome | 2021-01-27 | criteria provided, single submitter | clinical testing | 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 C15"). This variant has not been reported in the literature in individuals with SNTA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 115 of the SNTA1 protein (p.Ser115Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. 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 | RCV002454321 | SCV002615419 | uncertain significance | Cardiovascular phenotype | 2021-12-08 | criteria provided, single submitter | clinical testing | The p.S115Y variant (also known as c.344C>A), located in coding exon 2 of the SNTA1 gene, results from a C to A substitution at nucleotide position 344. The serine at codon 115 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |