ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)

dbSNP: rs2141294911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785406 SCV002026459 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001785406 SCV004296393 pathogenic Landau-Kleffner syndrome 2023-07-25 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Landau-Kleffner syndrome (PMID: 23933820). 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 isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 694 of the GRIN2A protein (p.Ile694Thr). ClinVar contains an entry for this variant (Variation ID: 1325869). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GRIN2A function (PMID: 27839871). 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.

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