Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687512 | SCV000815084 | uncertain significance | Progressive myoclonic epilepsy | 2018-04-04 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 143 of the EPM2A protein (p.Thr143Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs144204777, ExAC 0.003%). This variant has not been reported in the literature in individuals with EPM2A-related disease. 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: "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. |