Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000059529 | SCV001136018 | likely pathogenic | Severe myoclonic epilepsy in infancy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514308 | SCV003524719 | likely pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-02-13 | 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 SCN1A protein function. ClinVar contains an entry for this variant (Variation ID: 68649). This variant is also known as F1682S. This missense change has been observed in individual(s) with clinical features of SCN1A-related conditions (PMID: 14738421). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1692 of the SCN1A protein (p.Phe1692Ser). |
Uni |
RCV000059529 | SCV000091060 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |