Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701345 | SCV000830144 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2022-09-12 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 578363). 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 expected to disrupt CHRNA2 protein function. This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 310 of the CHRNA2 protein (p.Phe310Cys). |