ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs)

dbSNP: rs864309543
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000202630 SCV001200851 pathogenic Developmental and epileptic encephalopathy 94 2020-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1412Glyfs*64) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). This variant is present in population databases (rs768249023, ExAC 0.02%). This variant has been observed in an individual affected with genetic generalized epilepsy (PMID: 25783594). ClinVar contains an entry for this variant (Variation ID: 218392). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000202630 SCV002019262 pathogenic Developmental and epileptic encephalopathy 94 2024-01-18 criteria provided, single submitter clinical testing

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.