Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091721 | SCV001247914 | pathogenic | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001216785 | SCV001388597 | pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-06-27 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects CHRNB2 function (PMID: 11104662, 18456869, 22036597). 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: 17496). This missense change has been observed in individuals with autosomal dominant nocturnal frontal lobe epilepsy (PMID: 11104662, 17900292). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 287 of the CHRNB2 protein (p.Val287Met). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV000019048 | SCV002505576 | pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2022-03-30 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PS1, PM5_STR, PS3_MOD, PS4_MOD, PP1_MOD, PM2_SUP, PP3 |
Institute of Human Genetics, |
RCV003493411 | SCV004242495 | pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2024-01-30 | criteria provided, single submitter | clinical testing | Criteria applied: PS4,PM5_STR,PS3_MOD,PP1_MOD,PM2_SUP,PP3 |
OMIM | RCV000019048 | SCV000039335 | pathogenic | Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2001-01-01 | no assertion criteria provided | literature only |