Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048734 | SCV001212753 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1422 of the SCN1A protein (p.Tyr1422Cys). This variant is present in population databases (rs121917913, gnomAD 0.0009%). This missense change has been observed in individual(s) with SCN1A-related conditions (PMID: 17054684). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68540). 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. For these reasons, this variant has been classified as Pathogenic. |
Uni |
RCV000059414 | SCV000090938 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |