ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3622C>T (p.Arg1208Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003117194 SCV003796474 uncertain significance Landau-Kleffner syndrome 2023-09-22 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. 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. ClinVar contains an entry for this variant (Variation ID: 2428223). This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1208 of the GRIN2A protein (p.Arg1208Trp).
Ambry Genetics RCV004245959 SCV004877931 uncertain significance Inborn genetic diseases 2023-10-12 criteria provided, single submitter clinical testing The c.3622C>T (p.R1208W) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a C to T substitution at nucleotide position 3622, causing the arginine (R) at amino acid position 1208 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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