ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter)

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
Invitae RCV000689717 SCV000817382 pathogenic Primary ciliary dyskinesia 2018-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 814 (p.Arg814*) of the CCDC40 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in CCDC40 are known to be pathogenic. This particular truncation has been reported as homozygous and compound heterozygous with another truncating variant in individuals affected with primary ciliary dyskinesia (PMID: 21131974, 23255504). 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.