Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803849 | SCV000943736 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2018-11-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with glutamic acid at codon 1470 of the SCN1A protein (p.Gly1470Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1A-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Laboratory of Inherited Metabolic Diseases, |
RCV001089688 | SCV001245171 | uncertain significance | Severe myoclonic epilepsy in infancy | 2020-02-14 | criteria provided, single submitter | clinical testing |