Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000802272 | SCV000942096 | uncertain significance | Long QT syndrome | 2023-04-12 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 647708). This variant has not been reported in the literature in individuals affected with KCNJ5-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 58 of the KCNJ5 protein (p.Gly58Ser). |
| Ambry Genetics | RCV004028097 | SCV005036712 | uncertain significance | Cardiovascular phenotype | 2023-11-14 | criteria provided, single submitter | clinical testing | The c.171_172delTGinsCA variant (also known as p.G58S), located in coding exon 1 of the KCNJ5 gene, results from an in-frame deletion of TG and insertion of CA at nucleotide positions 171 to 172. This results in the substitution of the glycine residue for a serine residue at codon 58, 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. |