Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002373404 | SCV002685222 | uncertain significance | Cardiovascular phenotype | 2021-07-22 | criteria provided, single submitter | clinical testing | The p.G290E variant (also known as c.869G>A), located in coding exon 4 of the SNTA1 gene, results from a G to A substitution at nucleotide position 869. The glycine at codon 290 is replaced by glutamic acid, an amino acid with 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. |
Invitae | RCV003776529 | SCV004675901 | uncertain significance | Long QT syndrome | 2023-02-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 290 of the SNTA1 protein (p.Gly290Glu). This variant is present in population databases (rs561768315, gnomAD 0.01%). 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: 1764340). 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. 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003988002 | SCV004803585 | uncertain significance | not specified | 2024-01-22 | criteria provided, single submitter | clinical testing |