ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2002G>T (p.Asp668Tyr) (rs876661151)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221616 SCV000279671 likely pathogenic not provided 2015-11-25 criteria provided, single submitter clinical testing The D668Y variant in the GRIN2B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D668Y variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D668Y 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 and in silico analysis predicts this variant is probably damaging to the protein structure/function. The D668Y variant is a strong candidate for a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV001172320 SCV001335342 likely pathogenic Mental retardation, autosomal dominant 6 2017-04-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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