Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631638 | SCV000752721 | uncertain significance | Long QT syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 383 of the SNTA1 protein (p.Val383Met). This variant is present in population databases (rs767361112, 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: 526964). 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 with a negative predictive value of 80%. 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. |
Ambry Genetics | RCV002457997 | SCV002613617 | uncertain significance | Cardiovascular phenotype | 2021-11-29 | criteria provided, single submitter | clinical testing | The p.V383M variant (also known as c.1147G>A), located in coding exon 6 of the SNTA1 gene, results from a G to A substitution at nucleotide position 1147. The valine at codon 383 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Fulgent Genetics, |
RCV002483780 | SCV002797734 | uncertain significance | Long QT syndrome 12 | 2021-08-27 | criteria provided, single submitter | clinical testing |