Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000699795 | SCV000828522 | uncertain significance | Benign neonatal seizures | 2022-01-13 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of KCNQ3-related conditions (PMID: 29778030; Invitae). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 320 of the KCNQ3 protein (p.Gly320Glu). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 577120). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ3 protein function. 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. |
| Ambry Genetics | RCV002317923 | SCV000851424 | uncertain significance | Inborn genetic diseases | 2016-12-20 | criteria provided, single submitter | clinical testing | The p.G320E variant (also known as c.959G>A), located in coding exon 6 of the KCNQ3 gene, results from a G to A substitution at nucleotide position 959. The glycine at codon 320 is replaced by glutamic acid, 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. |