Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513780 | SCV003525065 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 1396 of the SCN1A protein (p.Cys1396Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epileptic encephalopathy (PMID: 17347258). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68538). 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 SCN1A protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Uni |
RCV000059412 | SCV000090936 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |