ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2543G>A (p.Cys848Tyr)

gnomAD frequency: 0.00002  dbSNP: rs779911797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502746 SCV000595068 uncertain significance not specified 2017-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002295300 SCV002594806 uncertain significance Landau-Kleffner syndrome 2022-08-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 435381). This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. This variant is present in population databases (rs779911797, gnomAD 0.01%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 848 of the GRIN2A protein (p.Cys848Tyr).

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