ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)

dbSNP: rs757713617
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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 RCV001209558 SCV001380998 pathogenic Landau-Kleffner syndrome 2023-07-18 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of GRIN2A-related conditions (PMID: 30544257). In at least one individual the variant was observed to be de novo. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 498 of the GRIN2A protein (p.Gly498Ser). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 930862). 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. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001209558 SCV002026435 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001209558 SCV001367461 uncertain significance Landau-Kleffner syndrome 2019-04-30 flagged submission clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001209558 SCV002011769 likely pathogenic Landau-Kleffner syndrome 2021-08-17 no assertion criteria provided clinical testing

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