ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3484C>T (p.Gln1162Ter)

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
Invitae RCV001057512 SCV001222010 pathogenic Primary ciliary dyskinesia 2020-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1162*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs760081822, ExAC 0.002%). This variant has been observed in individuals affected with primary ciliary dyskinesia (PMID: 27637300). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Genomics England Pilot Project,Genomics England RCV001542575 SCV001760153 pathogenic Ciliary dyskinesia, primary, 3 no assertion criteria provided clinical testing

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.