Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001371295 | SCV001567853 | uncertain significance | Long QT syndrome | 2022-07-19 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1061671). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (rs746800138, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 442 of the SNTA1 protein (p.Arg442Gln). |
| Ambry Genetics | RCV002384537 | SCV002692989 | uncertain significance | Cardiovascular phenotype | 2021-07-19 | criteria provided, single submitter | clinical testing | The p.R442Q variant (also known as c.1325G>A), located in coding exon 7 of the SNTA1 gene, results from a G to A substitution at nucleotide position 1325. The arginine at codon 442 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other vertebrate species. 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. |