ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) (rs797044912)

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
Ambry Genetics RCV000190741 SCV000244182 pathogenic Inborn genetic diseases 2013-10-21 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family
GeneDx RCV000657720 SCV000779469 pathogenic not provided 2018-05-14 criteria provided, single submitter clinical testing The R1679X variant in the CHD2 gene has been reported previously as a de novo variant in individuals with childhood onset epilepsy; some of these individuals were also reported to have intellectual disability (Helbig et al., 2016; de Kovel et al., 2016; Wang et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1679X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1679X as a pathogenic variant.
Invitae RCV000692792 SCV000820635 pathogenic Epileptic encephalopathy, childhood-onset 2018-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1679*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with childhood-onset epileptic encephalopathy (PMID: 28074849) and childhood-onset unclassified epilepsy (PMID: 26795593). ClinVar contains an entry for this variant (Variation ID: 208725). Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). For these reasons, this variant has been classified as 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.