Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193799 | SCV000247256 | likely pathogenic | Developmental and epileptic encephalopathy, 33 | 2015-02-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000622866 | SCV000742156 | pathogenic | Inborn genetic diseases | 2017-02-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000193799 | SCV000774988 | pathogenic | Developmental and epileptic encephalopathy, 33 | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 122 of the EEF1A2 protein (p.Glu122Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with neurological disease, including epilepsy and intellectual disability (PMID: 24697219, 26682508, 27441201). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 192252). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EEF1A2 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects EEF1A2 function (PMID: 3066688). For these reasons, this variant has been classified as Pathogenic. |
Génétique des Maladies du Développement, |
RCV000193799 | SCV001164200 | pathogenic | Developmental and epileptic encephalopathy, 33 | 2018-10-25 | criteria provided, single submitter | clinical testing | |
Epilepsy Neurogenetics Initiative, |
RCV001030064 | SCV001192844 | pathogenic | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | 2020-02-13 | criteria provided, single submitter | research | The EEF1A2 c.364G>A; p.Glu122Lys variant has been identified in three individuals with a developmental and epileptic encephalopathy characterized by global developmental delays, moderate to severe intellectual disability, and intractable infantile or early childhood onset epilepsy. One individual had a hyperkinetic movement disorder characterized by choreoathetosis. The variant is confirmed de novo in two individuals; testing of both parents was not performed in the third individual. The variant 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 pathogenic. |
Institute of Medical Genetics and Applied Genomics, |
RCV001267946 | SCV001446465 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Laboratoire de Génétique Moléculaire, |
RCV001267946 | SCV001468930 | pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV000172840 | SCV001529140 | pathogenic | Intellectual disability, autosomal dominant 38 | 2018-10-04 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease causing [PMID 24697219, 26682508, 27441201] |
Ce |
RCV001267946 | SCV001746716 | pathogenic | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001267946 | SCV001815518 | pathogenic | not provided | 2020-10-13 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32196822, 31477274, 27441201, 23033978, 23647072, 26740508, 19636410, 28911200, 28378778, 24697219, 3066688, 26682508) |
Institute of Human Genetics Munich, |
RCV000193799 | SCV004045930 | pathogenic | Developmental and epileptic encephalopathy, 33 | 2023-03-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000172840 | SCV000223806 | pathogenic | Intellectual disability, autosomal dominant 38 | 2015-04-01 | no assertion criteria provided | literature only | |
Department of Genetics, |
RCV001267946 | SCV004171547 | pathogenic | not provided | 2018-04-26 | no assertion criteria provided | clinical testing |