Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636413 | SCV000757852 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2022-08-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 530520). 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 tolerated. This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is present in population databases (rs368402085, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1759 of the SPTAN1 protein (p.Ala1759Val). |