ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) (rs587783442)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145671 SCV000192773 pathogenic CHARGE association 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000145671 SCV000253926 pathogenic CHARGE association 2017-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1494*) in the CHD7 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 in the literature in individuals affected with CHARGE syndrome (PMID: 21158681, 18089695, 16615981). ClinVar contains an entry for this variant (Variation ID: 158296). Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000627201 SCV000748186 pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing The R1494X nonsense variant in the CHD7 gene has been reported previously in association with CHARGE syndrome (Aramaki et al., 2006). The variant is not observed in large population cohorts (Lek et al., 2016). Approximately 45% of CHD7 pathogenic variants are nonsense changes predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay (Janssen et al., 2012; Zentner et al, 2010). In summary, we consider this variant to be pathogenic.
SBielas Lab, Department of Human Genetics,University of Michigan RCV000145671 SCV000680049 pathogenic CHARGE association 2017-10-27 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000145671 SCV001197955 likely pathogenic CHARGE association no assertion criteria provided research

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.