ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2065G>A (p.Gly689Ser)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210391 SCV000258444 likely pathogenic Mental retardation, autosomal dominant 6 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.
GeneDx RCV000478281 SCV000574266 pathogenic not provided 2018-10-25 criteria provided, single submitter clinical testing The G689S variant in the GRIN2B gene has been reported previously as de novo in one individual from a cohort of patients with cerebral visual impairment and intellectual disability who underwent whole exome sequencing (Bosch et al., 2016). The G689S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G689S 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 in the S2 domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G689S as a pathogenic variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000478281 SCV000692743 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004753 SCV001164232 pathogenic Epileptic encephalopathy, early infantile, 27 2018-09-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000210391 SCV001335346 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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