ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2764del (p.Glu922fs)

dbSNP: rs2141844216
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222918 SCV002500261 likely pathogenic Developmental and epileptic encephalopathy 94 2022-03-09 criteria provided, single submitter clinical testing Variant summary: CHD2 c.2764delG (p.Glu922ArgfsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in HGMD and have been classified as pathogenic in ClinVar. The variant was absent in 251156 control chromosomes. To our knowledge, no occurrence of c.2764delG in individuals affected with Developmental And Epileptic Encephalopathy 94 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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.