Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536922 | SCV000633814 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-07-14 | criteria provided, single submitter | clinical testing | This variant, c.172_183del, results in the deletion of 4 amino acid(s) of the SCN1A protein (p.Gly58_Leu61del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with epilepsy (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 461244). This variant disrupts a region of the SCN1A protein in which other variant(s) (p.Leu61Phe) have been determined to be pathogenic (PMID: 18930999, 28074849). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |