ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1126-3C>T

dbSNP: rs1555112424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522017 SCV000620746 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GRIN2B gene. The c.1126-3 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1126-3 C>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models did not predict an affect on splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
New York Genome Center RCV001836833 SCV002097670 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2020-06-26 criteria provided, single submitter clinical testing The inherited c.1126-3C>T variant identified in the GRIN2B gene is a single nucleotide change which replaces a well conserved Guanine for Adenine at the DNA level (Cytosine for Thymine in the mRNA transcript). This variant is absent from gnomAD(v3.0) suggesting it is not a common benign variant in the populations represented in that database. The Transcript inferred Pathogenicity Score (TraP; v3) for this variant is 0.546, (>99% score-percentile) suggesting it is probably damaging. This variant is reported in ClinVar as a Variant of Uncertain Significance (VarID:451976) and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the inherited c.1126-3C>T variant identified in the GRIN2B gene is reported here as a Variant of Uncertain Significance.

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.