Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000636425 | SCV000757864 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-03-23 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Thr1909 amino acid residue in SCN1A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12083760, 17054685, 28202706). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 530525). This variant has been observed in individual(s) with severe myoclonic epilepsy of infancy syndrome and/or generalized epilepsy (PMID: 21248271, 28102150). 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 variant, c.5725_5727del, results in the deletion of 1 amino acid(s) of the SCN1A protein (p.Thr1909del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV003126887 | SCV003803329 | likely pathogenic | not provided | 2022-08-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); This deletion is predicted to be within the C-terminal cytoplasmic domain; In-frame deletion of 1 amino acid in a non-repeat region predicted to critically alter the protein; This variant is associated with the following publications: (PMID: 28102150, 32090326, 21248271) |