ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3499G>A (p.Val1167Ile)

gnomAD frequency: 0.00002  dbSNP: rs1042339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236796 SCV000292725 uncertain significance not specified 2017-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226919 SCV001399248 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450721 SCV002612916 uncertain significance Inborn genetic diseases 2020-03-20 criteria provided, single submitter clinical testing The p.V1167I variant (also known as c.3499G>A), located in coding exon 12 of the GRIN2B gene, results from a G to A substitution at nucleotide position 3499. The valine at codon 1167 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine 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.

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