Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002800497 | SCV003020901 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2022-08-19 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 829 of the SCN1A protein (p.Gln829Arg). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. 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 SCN1A 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. |
| Gene |
RCV003108129 | SCV003762067 | uncertain significance | not provided | 2023-01-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This substitution is predicted to be within the the intracellular loop between the S2 and S3 transmembrane segments of the second homologous domain; Has not been previously published as pathogenic or benign to our knowledge |