ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3491G>A (p.Arg1164His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002459026 SCV002612841 uncertain significance Inborn genetic diseases 2019-09-06 criteria provided, single submitter clinical testing The p.R1164H variant (also known as c.3491G>A), located in coding exon 12 of the GRIN2B gene, results from a G to A substitution at nucleotide position 3491. The arginine at codon 1164 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099520 SCV003016160 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-12-20 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 GRIN2B protein function. This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. This variant is present in population databases (rs201250088, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1164 of the GRIN2B protein (p.Arg1164His).

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