ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3785C>T (p.Thr1262Ile)

dbSNP: rs587780351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117176 SCV000151340 uncertain significance not provided 2013-06-11 criteria provided, single submitter clinical testing
Invitae RCV001306465 SCV001495839 uncertain significance Landau-Kleffner syndrome 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1262 of the GRIN2A protein (p.Thr1262Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 129187). 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 with a negative predictive value of 95%. 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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