Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177235 | SCV000229077 | uncertain significance | not provided | 2014-12-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000694882 | SCV000823348 | uncertain significance | Progressive myoclonic epilepsy | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with histidine at codon 200 of the EPM2A protein (p.Gln200His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs142658692, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with EPM2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 196414). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |