Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001891759 | SCV002177188 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-05-05 | 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. 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 not expected to disrupt CHRNA2 protein function. ClinVar contains an entry for this variant (Variation ID: 1397610). This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 294 of the CHRNA2 protein (p.Gly294Ser). |
| Ambry Genetics | RCV002370472 | SCV002683845 | uncertain significance | Inborn genetic diseases | 2018-04-09 | criteria provided, single submitter | clinical testing | The p.G294S variant (also known as c.880G>A), located in coding exon 5 of the CHRNA2 gene, results from a G to A substitution at nucleotide position 880. The glycine at codon 294 is replaced by serine, 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. |