ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp)

dbSNP: rs1060499659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449489 SCV000537718 likely pathogenic Developmental and epileptic encephalopathy, 27 2014-09-22 criteria provided, single submitter clinical testing This heterozygous mutation in the GRIN2B gene was identified in a young female patient with epilepsy and intellectual deficiency
Labcorp Genetics (formerly Invitae), Labcorp RCV002522738 SCV003441201 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-08-02 criteria provided, single submitter clinical testing 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 GRIN2B protein function. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 533 of the GRIN2B protein (p.Gly533Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of GRIN2B-related conditions (PMID: 27353043; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 397525). For these reasons, this variant has been classified as Pathogenic.

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