ClinVar Miner

Submissions for variant NM_001958.5(EEF1A2):c.293T>G (p.Phe98Cys)

dbSNP: rs1359844902
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia 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.

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