ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)

dbSNP: rs751455326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambulatório de Genética Médica, Hospital Escola da Universidade Federal de Pelotas RCV000585832 SCV000622118 likely pathogenic Landau-Kleffner syndrome 2017-12-20 criteria provided, single submitter clinical testing Patient with this de novo variant (parents tested) shows the compatible clinical phenotype, including epilepsy and developmental delay.
Mendelics RCV000585832 SCV001139944 likely pathogenic Landau-Kleffner syndrome 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000585832 SCV002026159 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
Invitae RCV000585832 SCV003484106 pathogenic Landau-Kleffner syndrome 2022-06-26 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) performed at Invitae indicates that this missense variant is expected to disrupt GRIN2A protein function. ClinVar contains an entry for this variant (Variation ID: 495226). This missense change has been observed in individual(s) with GRIN2A related disorders (PMID: 30544257). 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 alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 818 of the GRIN2A protein (p.Ala818Glu).

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