ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1223T>C (p.Ile408Thr)

gnomAD frequency: 0.00001  dbSNP: rs1431001691
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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 RCV001361777 SCV001557767 uncertain significance Landau-Kleffner syndrome 2020-10-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 408 of the GRIN2A protein (p.Ile408Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. This variant has not been reported in the literature in individuals with GRIN2A-related conditions. 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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