Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Epilepsy Neurogenetics Initiative, |
RCV001030063 | SCV001192843 | likely pathogenic | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | 2020-02-13 | criteria provided, single submitter | research | The EEF1A2 c.293T>G; p.Phe98Cys variant has been identified in an individual with global developmental delays with moderate-to-severe intellectual disability, optic nerve atrophy, epileptiform discharges on EEG, and hyperkinetic movement disorder characterized by dystonia and generalized chorea. The variant is de novo in this individual, is absent from population databases (ExAC, gnomAD), and is predicted to have a damaging effect on the protein by in silico models. Therefore, this variant has been classified as likely pathogenic. |