ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1454A>G (p.His485Arg)

dbSNP: rs2141345000
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001916203 SCV002180610 uncertain significance Landau-Kleffner syndrome 2021-02-17 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 485 of the GRIN2A protein (p.His485Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine 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. 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. 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.

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