Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482418 | SCV000569338 | uncertain significance | not provided | 2020-01-23 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001244619 | SCV001417851 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2022-07-05 | 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 CHRNB2 protein function. ClinVar contains an entry for this variant (Variation ID: 420484). This variant has not been reported in the literature in individuals affected with CHRNB2-related conditions. This variant is present in population databases (rs752355994, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 93 of the CHRNB2 protein (p.Thr93Ser). |
Genome |
RCV001244619 | SCV002074903 | not provided | Autosomal dominant nocturnal frontal lobe epilepsy | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 01-27-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |