ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2117T>A (p.Met706Lys)

dbSNP: rs2136415741
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266801 SCV002548910 pathogenic Intellectual disability, autosomal dominant 6 2021-08-05 criteria provided, single submitter clinical testing The de novo missense variant c.2117T>A, p.Met706Lys identified in the GRIN2B gene has not been reported in individuals with GRIN2B-related conditions. This variant is absent in gnomAD v3.1.1, suggesting it is not a common benign variant in the populations represented in this database. In silico algorithms predict a deleterious effect, and the variant resides at the Ligand-gated ion channel domain. An allelic variant (c.2116A>G, p.Met706Val) has been observed inindividuals with clinical features of GRIN2B-related conditions (PMID: 28377535, 28333917, 27818011, 28867141). Based on the available evidence, the de novo missense variant c.2117T>A, p.Met706Lys in the GRIN2B gene is classified as pathogenic.

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