Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497450 | SCV000590636 | uncertain significance | not provided | 2017-06-19 | criteria provided, single submitter | clinical testing | The R394C variant has not been published as pathogenic or been reported as benign to our knowledge. The R394C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R394C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where only amino acids with similar properties to arginine are tolerated across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. |
Invitae | RCV000808870 | SCV000948998 | uncertain significance | Long QT syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 394 of the SNTA1 protein (p.Arg394Cys). This variant is present in population databases (rs567451585, 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: 432866). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |
Fulgent Genetics, |
RCV002496913 | SCV002813454 | uncertain significance | Long QT syndrome 12 | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302735 | SCV003997159 | uncertain significance | Cardiovascular phenotype | 2023-05-26 | criteria provided, single submitter | clinical testing | The p.R394C variant (also known as c.1180C>T), located in coding exon 6 of the SNTA1 gene, results from a C to T substitution at nucleotide position 1180. The arginine at codon 394 is replaced by cysteine, an amino acid with highly dissimilar 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. |
Dept of Medical Biology, |
RCV000808870 | SCV004022079 | uncertain significance | Long QT syndrome | 2024-01-08 | criteria provided, single submitter | research | Criteria: PM2, PP3 |