Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791514 | SCV000930766 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2018-11-17 | criteria provided, single submitter | clinical testing | 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. 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. This variant has not been reported in the literature in individuals with SPTAN1-related disease. This variant is present in population databases (rs763633945, ExAC 0.01%). This sequence change replaces leucine with valine at codon 293 of the SPTAN1 protein (p.Leu293Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |