Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000686133 | SCV000813637 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-09-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects KCNQ2 function (PMID: 36849527). 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 KCNQ2 protein function. ClinVar contains an entry for this variant (Variation ID: 566350). This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 35468861, 36849527). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 258 of the KCNQ2 protein (p.Asn258Lys). |
| Center of Excellence for Medical Genomics, |
RCV002275104 | SCV002564400 | pathogenic | Developmental and epileptic encephalopathy, 7 | 2022-08-19 | no assertion criteria provided | research | |
| Center of Excellence for Medical Genomics, |
RCV002281579 | SCV002570030 | pathogenic | Seizures, benign familial neonatal, 1 | 2002-09-08 | no assertion criteria provided | research |