ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3245C>T (p.Thr1082Ile)

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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 RCV003079203 SCV003461739 uncertain significance Landau-Kleffner syndrome 2022-10-25 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of GRIN2A-related conditions (PMID: 28333917). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1082 of the GRIN2A protein (p.Thr1082Ile). This variant is not present in population databases (gnomAD no frequency). 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. 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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