ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2172-2A>G

dbSNP: rs398122824
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000032863 SCV001335410 pathogenic Intellectual disability, autosomal dominant 6 2017-04-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Breda Genetics srl RCV000032863 SCV001443275 pathogenic Intellectual disability, autosomal dominant 6 2020-09-01 criteria provided, single submitter clinical testing The variant c.2172-2A>G in the GRIN2B gene is reported as pathogenic for autosomal dominant mental retardation 6 in ClinVar (Variation ID: 39659). The variant affects the acceptor splice site of intron 10 and is therefore highly likely to impact the splicing process by causing the exclusion of the following exons from the mature transcript and the translation of an aberrant protein or a shift in the reading frame. There is no information on frequency in gnomAD, 1000 Genomes or NHLI Exome Sequencing Project (ESP). The c.2172-2A>G de novo pathogenic variant has already been reported by O’Roak et al. (2012) in a patient with autism, a nonverbal IQ of 65 and developmental regression (PMID: 23160955).
OMIM RCV000032863 SCV000056632 pathogenic Intellectual disability, autosomal dominant 6 2012-12-21 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.