Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000059502 | SCV000221760 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Invitae | RCV001385513 | SCV001585392 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2020-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 1287 of the SCN1A protein (p.Leu1287Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Dravet syndrome (PMID: 20431604, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68624). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic. |
Uni |
RCV000059502 | SCV000091028 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |