Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474102 | SCV000553138 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2016-05-26 | criteria provided, single submitter | clinical testing | 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. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SPTAN1-related disease. This sequence change replaces isoleucine with threonine at codon 817 of the SPTAN1 protein (p.Ile817Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. |