Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002457275 | SCV002612985 | uncertain significance | Cardiovascular phenotype | 2020-05-14 | criteria provided, single submitter | clinical testing | The p.K116E variant (also known as c.346A>G), located in coding exon 2 of the SNTA1 gene, results from an A to G substitution at nucleotide position 346. The lysine at codon 116 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly 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. |
| Invitae | RCV003775634 | SCV004613211 | uncertain significance | Long QT syndrome | 2023-03-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 116 of the SNTA1 protein (p.Lys116Glu). This variant is present in population databases (rs370893672, gnomAD 0.004%). ClinVar contains an entry for this variant (Variation ID: 1731712). 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 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. |