ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) (rs797045047)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191091 SCV000245488 likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2014-10-21 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it twice in our laboratory de novo: in a 24-year-old female with absent speech, autism, intellectual disability, mild unilateral conductive hearing loss, spasticity, joint laxity, failure to thrive, gastroesophageal disorder, strabismus, myopia, mild mitral valve prolapse, intermittent episodes of syncope, and scoliosis; in a 7-year-old male with absent speech, regression, intellectual disability, congenital hypotonia, movement disorder, short stature
GeneDx RCV000479068 SCV000569832 pathogenic not provided 2018-02-20 criteria provided, single submitter clinical testing The G620R variant in the GRIN1 gene has been reported previously in the apparently de novo state in individuals with intellectual disability, developmental delay, and hypotonia (Lemke et al., 2016; Chen et al., 2017). The G620R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G620R 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. Functional studies indicate that G620R leads to loss of NMDA receptor function (Lemke et al., 2016; Chen et al., 2017). We interpret G620R as a pathogenic variant.
Ambry Genetics RCV000622498 SCV000742522 likely pathogenic Inborn genetic diseases 2017-05-15 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526577 SCV001737004 pathogenic Seizures criteria provided, single submitter research
OMIM RCV000191091 SCV000678284 pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2018-02-22 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.