Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201173 | SCV000255833 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003588599 | SCV004293419 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-11-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217248). This premature translational stop signal has been observed in individual(s) with SCN1A-related conditions (PMID: 17347258, 28202706). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1812*) in the SCN1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 198 amino acid(s) of the SCN1A protein. |