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
New York Genome Center RCV004799320 SCV001431132 uncertain significance Developmental and epileptic encephalopathy, 27 2022-01-07 criteria provided, single submitter clinical testing
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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002570577 SCV003257930 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-12-16 criteria provided, single submitter clinical testing

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