ClinVar Miner

Submissions for variant NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) (rs786205866)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193799 SCV000247256 likely pathogenic Epileptic encephalopathy, early infantile, 33 2015-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622866 SCV000742156 likely pathogenic Inborn genetic diseases 2017-02-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000193799 SCV000774988 pathogenic Epileptic encephalopathy, early infantile, 33 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 122 of the EEF1A2 protein (p.Glu122Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in multiple individuals affected with neurological disease, including epilepsy and intellectual disability (PMID: 24697219, 26682508, 27441201). ClinVar contains an entry for this variant (Variation ID: 192252). This variant is located at the fifth α-helix of domain I, which is involved in the GTP/GDP binding and hydrolysis of GTP. Experimental studies have shown that this missense change disrupted the normal function of EEFIA2 to limit the frequency of errors during genetic code translation in yeast (PMID: 3066688). For these reasons, this variant has been classified as Pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000193799 SCV001164200 pathogenic Epileptic encephalopathy, early infantile, 33 2018-10-25 criteria provided, single submitter clinical testing
OMIM RCV000172840 SCV000223806 pathogenic Mental retardation, autosomal dominant 38 2015-04-01 no assertion criteria provided literature only

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