Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482050 | SCV000568940 | likely benign | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19628475, 22873564, 21107856, 24385388, 30054184) |
Invitae | RCV000555199 | SCV000658072 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-03-20 | 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 CHRNA4 protein function. ClinVar contains an entry for this variant (Variation ID: 420221). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. This variant is present in population databases (rs200200279, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 487 of the CHRNA4 protein (p.Arg487Trp). |
Ce |
RCV000482050 | SCV001502402 | uncertain significance | not provided | 2020-11-01 | criteria provided, single submitter | clinical testing |