Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226409 | SCV001398722 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-09-22 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 228 of the KCNQ2 protein (p.His228Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with benign familial neonatal seizures (PMID: 4055306, 14534157; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 21797). 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 KCNQ2 protein function. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000678089 | SCV000041652 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | BFNE (benign familial neonatal epilepsy) | |
Channelopathy- |
RCV003315302 | SCV004015074 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |