Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001315931 | SCV001506525 | uncertain significance | Brugada syndrome | 2020-06-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with KCNJ8-related conditions. 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 411 of the KCNJ8 protein (p.Gln411Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. |
| Ambry Genetics | RCV004034380 | SCV005023460 | uncertain significance | Cardiovascular phenotype | 2024-03-13 | criteria provided, single submitter | clinical testing | The p.Q411P variant (also known as c.1232A>C), located in coding exon 2 of the KCNJ8 gene, results from an A to C substitution at nucleotide position 1232. The glutamine at codon 411 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |