ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1858G>A (p.Val620Met) (rs796052571)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187697 SCV000241294 likely pathogenic not provided 2016-03-09 criteria provided, single submitter clinical testing The V620M variant in the GRIN2B gene has not been reported previously as a pathogenic varaint nor as a benign polymorphism, to our knowledge. The V620M 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 V620M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution is predicted to occur at a position within the cytoplasmic domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore this variant is likely pathogenic; however the possibility that is benign cannot be excluded.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000495871 SCV000583966 likely pathogenic Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2017-06-07 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV001172368 SCV001335423 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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