ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8744dup (p.Leu2916fs)

dbSNP: rs1554607313
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
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659304 SCV000781115 pathogenic CHARGE syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659304 SCV002238319 pathogenic CHARGE syndrome 2022-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CHD7 protein in which other variant(s) (p.Asp2988Glyfs*2) have been determined to be pathogenic (PMID: 18073582, 31564432). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 547198). This premature translational stop signal has been observed in individual(s) with clinical features of CHARGE syndrome (PMID: 16155193). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu2916Ilefs*25) in the CHD7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acid(s) of the CHD7 protein.

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.