ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys)

dbSNP: rs763469464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002402797 SCV002707681 uncertain significance Inborn genetic diseases 2017-09-29 criteria provided, single submitter clinical testing The p.E55K variant (also known as c.163G>A), located in coding exon 1 of the GRIN2B gene, results from a G to A substitution at nucleotide position 163. The glutamic acid at codon 55 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, lysine is the reference amino acid in other 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.
Invitae RCV002570577 SCV003257930 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 55 of the GRIN2B protein (p.Glu55Lys). This variant is present in population databases (rs763469464, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 977405). 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 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.
New York Genome Center RCV001255041 SCV001431132 uncertain significance Seizure 2019-11-21 no assertion criteria provided clinical testing

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