ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)

dbSNP: rs796052550
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187644 SCV000241241 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing Reported as a de novo variant in a patient with an unknown phenotype in published literature (Strehlow et al., 2019); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29655203, 27839871, 30544257)
Invitae RCV000639588 SCV000761165 uncertain significance Landau-Kleffner syndrome 2022-05-31 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: 205658). This missense change has been observed in individual(s) with GRIND2A-related conditions (PMID: 29655203). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 733 of the GRIN2A protein (p.Ala733Thr).
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000639588 SCV000840408 uncertain significance Landau-Kleffner syndrome 2018-01-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000639588 SCV002026150 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research

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