Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459991 | SCV000553142 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2020-01-27 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with valine at codon 1841 of the SPTAN1 protein (p.Ile1841Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs781083220, ExAC 0.003%) but has not been reported in the literature in individuals with a SPTAN1-related disease. |