ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)

dbSNP: rs886041295
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000317346 SCV000329650 pathogenic not provided 2023-10-02 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, 31526516, 27839871)
Invitae RCV000655320 SCV000777250 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-09-05 criteria provided, single submitter clinical testing 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. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 516 of the GRIN2B protein (p.Asn516Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of GRIN2B-related condition (PMID: 28377535). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 279975). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001172351 SCV001335400 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).
Institute of Human Genetics, University of Leipzig Medical Center RCV001723869 SCV001950101 pathogenic Developmental and epileptic encephalopathy, 27 2022-01-12 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_VSTR, PS4_MOD, PM2_SUP, PP3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001172351 SCV002759392 likely pathogenic Intellectual disability, autosomal dominant 6 2022-12-08 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265472 SCV001443609 pathogenic Complex neurodevelopmental disorder 2018-01-12 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-01-12 and interpreted as Pathogenic. The reporting laboratory might also submit to ClinVar. This variant was identified in multiple probands enrolled in Simons Searchlight.

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