ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)

dbSNP: rs767779749
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803189 SCV000943051 pathogenic Primary ciliary dyskinesia 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1889Aspfs*12) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). This variant is present in population databases (rs767779749, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 648455). For these reasons, this variant has been classified as Pathogenic.
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV000803189 SCV001431721 likely pathogenic Primary ciliary dyskinesia 2018-07-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784423 SCV002017284 likely pathogenic Primary ciliary dyskinesia 3 2021-10-14 criteria provided, single submitter 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.