ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)

dbSNP: rs876661055
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217622 SCV000279381 pathogenic not provided 2023-03-24 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: 32144935, 28377535, 27848944, 31526516, 35893069, 36758276, 27839871)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625193 SCV000744079 pathogenic Intellectual disability, autosomal dominant 6 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625193 SCV000745553 likely pathogenic Intellectual disability, autosomal dominant 6 2017-05-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000625193 SCV001335352 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).
Diagnostic Laboratory, Strasbourg University Hospital RCV001260713 SCV001437805 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Invitae RCV002519747 SCV003441200 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-07-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt GRIN2B protein function. ClinVar contains an entry for this variant (Variation ID: 234500). This missense change has been observed in individual(s) with intellectual disability (PMID: 28377535). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 751 of the GRIN2B protein (p.Ile751Thr).
GenomeConnect - Simons Searchlight RCV001265388 SCV001443513 pathogenic Complex neurodevelopmental disorder 2019-02-01 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-02-01 and interpreted as Pathogenic. The reporting laboratory might also submit to ClinVar. This variant was identified in multiple probands enrolled in Simons Searchlight.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000217622 SCV001741638 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000217622 SCV001954761 pathogenic not provided no assertion criteria provided clinical testing
Molecular Genetics laboratory, Necker Hospital RCV000217622 SCV004031312 pathogenic not provided 2023-03-29 no assertion criteria provided clinical testing

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