ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.968A>G (p.Gln323Arg)

dbSNP: rs2044755009
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038616 SCV001202095 uncertain significance Landau-Kleffner syndrome 2021-07-13 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. This sequence change replaces glutamine with arginine at codon 323 of the GRIN2A protein (p.Gln323Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GRIN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 837314). 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 not expected to disrupt GRIN2A protein function.

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