ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.241A>G (p.Ile81Val)

gnomAD frequency: 0.00001  dbSNP: rs200262227
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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 RCV002317562 SCV000851065 uncertain significance Inborn genetic diseases 2016-06-21 criteria provided, single submitter clinical testing The p.I81V variant (also known as c.241A>G), located in coding exon 1 of the GRIN2B gene, results from an A to G substitution at nucleotide position 241. The isoleucine at codon 81 is replaced by valine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs200262227, but was absent from population-based cohorts in the NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project databases. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV003768156 SCV004577536 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-03-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 81 of the GRIN2B protein (p.Ile81Val). 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. ClinVar contains an entry for this variant (Variation ID: 589850). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. This variant is present in population databases (rs200262227, gnomAD 0.007%).

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