Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002049438 | SCV002110231 | uncertain significance | Long QT syndrome | 2021-04-04 | 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: "Benign"; Align-GVGD: "Class C15"). 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 with SNTA1-related conditions. This variant is present in population databases (rs559396761, ExAC 0.002%). This sequence change replaces proline with leucine at codon 231 of the SNTA1 protein (p.Pro231Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. |
| Ambry Genetics | RCV004038930 | SCV005020239 | likely benign | Cardiovascular phenotype | 2023-12-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |