Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480958 | SCV000569469 | pathogenic | not provided | 2023-04-30 | criteria provided, single submitter | clinical testing | This substitution is predicted to be within the C-terminal cytoplasmic domain.; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25982755, 20437616, 31418850, 35104249) |
Invitae | RCV001850942 | SCV002293435 | likely pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-02-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 369807). This missense change has been observed in individual(s) with KCNQ2-related conditions (PMID: 25982755). It has also been observed to segregate with disease in related individuals. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 578 of the KCNQ2 protein (p.Met578Val). |
Gene |
RCV000678193 | SCV000484642 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | BFNE (benign familial neonatal epilepsy) | |
Channelopathy- |
RCV003315343 | SCV004015028 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |