Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambulatório de Genética Médica, |
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, |
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). |