Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810006 | SCV000950192 | pathogenic | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2023-08-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 12879). 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 SCN2A protein function. Experimental studies have shown that this missense change affects SCN2A function (PMID: 17021166). For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individuals with benign familial neonatal-infantile seizures (PMID: 15048894, 23360469, 29215089). It has also been observed to segregate with disease in related individuals. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 223 of the SCN2A protein (p.Arg223Gln). This variant is not present in population databases (gnomAD no frequency). |
Institute of Human Genetics, |
RCV001253574 | SCV001429363 | likely pathogenic | Developmental and epileptic encephalopathy, 11 | 2019-08-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000013739 | SCV000033986 | pathogenic | Seizures, benign familial infantile, 3 | 2004-04-01 | no assertion criteria provided | literature only | |
Neurology Department, |
RCV001847597 | SCV002099487 | pathogenic | Benign familial infantile epilepsy | 2022-02-16 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV002274897 | SCV002562862 | likely pathogenic | Seizure | no assertion criteria provided | clinical testing | ||
Channelopathy- |
RCV002319422 | SCV002605489 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |