Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804714 | SCV000944636 | uncertain significance | Long QT syndrome | 2022-09-26 | 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 expected to disrupt SNTA1 protein function. ClinVar contains an entry for this variant (Variation ID: 649723). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 369 of the SNTA1 protein (p.Arg369His). |
Fulgent Genetics, |
RCV002487718 | SCV002792798 | uncertain significance | Long QT syndrome 12 | 2021-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004028191 | SCV005020235 | uncertain significance | Cardiovascular phenotype | 2023-09-15 | criteria provided, single submitter | clinical testing | The p.R369H variant (also known as c.1106G>A), located in coding exon 6 of the SNTA1 gene, results from a G to A substitution at nucleotide position 1106. The arginine at codon 369 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |