Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000461916 | SCV000548772 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-09-29 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 18 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein. It affects a nucleotide within the consensus splice site of the intron. For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 408931). This variant has been observed in individual(s) with clinical features of epileptic encephalopathy and/or Dravet syndrome (PMID: 22140375, 31864146; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). |
| Mendelics | RCV000986887 | SCV001136037 | likely pathogenic | Severe myoclonic epilepsy in infancy | 2019-05-28 | criteria provided, single submitter | clinical testing |