ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val)

dbSNP: rs797044849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217079 SCV000279633 pathogenic not provided 2022-02-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27839871, 28377535, 27818011, 28636915, 31618753, 34568804)
Institute of Human Genetics, University of Leipzig Medical Center RCV001172337 SCV001335376 likely pathogenic Intellectual disability, autosomal dominant 6 2017-04-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
PreventionGenetics, part of Exact Sciences RCV004529382 SCV004110343 pathogenic GRIN2B-related disorder 2023-03-30 criteria provided, single submitter clinical testing The GRIN2B c.2459G>T variant is predicted to result in the amino acid substitution p.Gly820Val. This missense change was documented de novo in at least two unrelated individuals with developmental delays and intellectual disability (Platzer et al. 2017. PubMed ID: 28377535, Ziats et al. 2020. PubMed ID: 31618753). Additionally, multiple patients with de novo variants leading to different amino acid substitutions at this residue have been reported with features consistent with GRIN2B-related disease (p.Gly820Arg, p.Gly820Ala, p.Gly820Glu; Platzer et al. 2017. PubMed ID: 28377535, Powis et al. 2020. PubMed ID: 31628766, Gao et al. 2018. PubMed ID: 30440138, Marinakis et al. 2021. PubMed ID: 34008892). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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