Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003377739 | SCV004096780 | uncertain significance | Cardiovascular phenotype | 2023-08-23 | criteria provided, single submitter | clinical testing | The p.Q454R variant (also known as c.1361A>G), located in coding exon 7 of the SNTA1 gene, results from an A to G substitution at nucleotide position 1361. The glutamine at codon 454 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Invitae | RCV003778118 | SCV004643696 | uncertain significance | Long QT syndrome | 2023-05-14 | 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. 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. This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 454 of the SNTA1 protein (p.Gln454Arg). |