Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001901910 | SCV002137299 | uncertain significance | Long QT syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 384 of the SNTA1 protein (p.Glu384Gly). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1362765). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Ai |
RCV002224099 | SCV002502965 | uncertain significance | not provided | 2021-11-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343917 | SCV002622942 | uncertain significance | Cardiovascular phenotype | 2018-09-08 | criteria provided, single submitter | clinical testing | The p.E384G variant (also known as c.1151A>G), located in coding exon 6 of the SNTA1 gene, results from an A to G substitution at nucleotide position 1151. The glutamic acid at codon 384 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |