ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) (rs754867753)

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
Fulgent Genetics,Fulgent Genetics RCV000763421 SCV000894158 pathogenic Ciliary dyskinesia, primary, 15 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000198649 SCV000253929 pathogenic Primary ciliary dyskinesia 2016-07-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 321 (p.Arg321*). 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 in individuals affected with primary ciliary dyskinesia (PMID: 21131974, 23255504). This variant is also known as c.960C>T in the literature. 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.