ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2515G>A (p.Glu839Lys) (rs1085307547)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488929 SCV000576700 likely pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing The E839K variant in the GRIN2B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E839K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E839K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E839K as a likely pathogenic variant.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260640 SCV001437732 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265378 SCV001443503 likely pathogenic Complex neurodevelopmental disorder 2017-10-06 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-10-06 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-05-28 by GTR ID of laboratory name Regione Lombardia. The reporting laboratory might also submit to ClinVar.

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