Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000814401 | SCV000954810 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2022-11-15 | 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CHRNA4 protein function. ClinVar contains an entry for this variant (Variation ID: 657727). This missense change has been observed in at least one individual who was not affected with CHRNA4-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 483 of the CHRNA4 protein (p.Arg483Trp). |
| Revvity Omics, |
RCV003485649 | SCV004235077 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2023-04-13 | criteria provided, single submitter | clinical testing |