Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002396939 | SCV002697963 | uncertain significance | Cardiovascular phenotype | 2020-12-09 | criteria provided, single submitter | clinical testing | The p.H491Y variant (also known as c.1471C>T), located in coding exon 8 of the SNTA1 gene, results from a C to T substitution at nucleotide position 1471. The histidine at codon 491 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Invitae | RCV003095205 | SCV003248472 | uncertain significance | Long QT syndrome | 2022-04-04 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (rs751981336, gnomAD 0.004%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 491 of the SNTA1 protein (p.His491Tyr). |