ClinVar Miner

Submissions for variant NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)

dbSNP: rs1568994522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700489 SCV000829246 pathogenic Developmental and epileptic encephalopathy, 33 2023-01-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EEF1A2 protein function. ClinVar contains an entry for this variant (Variation ID: 577676). This missense change has been observed in individual(s) with clinical features of EEF1A2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 381 of the EEF1A2 protein (p.Arg381Trp).
Institute of Human Genetics, University of Leipzig Medical Center RCV001255362 SCV001431692 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.1141C>T, p.(Arg381Trp) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was not maternal.The variant likely explains the NDD in this individual.
Institute of Human Genetics, University of Leipzig Medical Center RCV000700489 SCV001439922 uncertain significance Developmental and epileptic encephalopathy, 33 2019-01-01 criteria provided, single submitter clinical testing
Department of Genetics, Robert DEBRE University Hospital RCV003444649 SCV004171548 likely pathogenic not provided 2018-04-26 no assertion criteria provided clinical testing

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