Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001918175 | SCV002185789 | uncertain significance | Brugada syndrome 6 | 2023-03-11 | 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. This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 83 of the KCNE3 protein (p.Arg83Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNE3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1406921). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. |
| Ambry Genetics | RCV002425221 | SCV002741007 | uncertain significance | Cardiovascular phenotype | 2024-02-16 | criteria provided, single submitter | clinical testing | The p.R83P variant (also known as c.248G>C), located in coding exon 1 of the KCNE3 gene, results from a G to C substitution at nucleotide position 248. The arginine at codon 83 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |