ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter) (rs141945265)

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
Invitae RCV000033017 SCV000836236 pathogenic Ciliary dyskinesia, primary, 19 2018-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln192*) in the LRRC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs141945265, ExAC 0.003%). This variant has been reported in an individual affected with primary ciliary dyskinesia (PMID: 23122589). ClinVar contains an entry for this variant (Variation ID: 39795). Loss-of-function variants in LRRC6 are known to be pathogenic (PMID: 23122589). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000033017 SCV000056797 pathogenic Ciliary dyskinesia, primary, 19 2012-11-02 no assertion criteria provided literature only
GeneReviews RCV000033017 SCV000086956 pathologic Ciliary dyskinesia, primary, 19 2011-09-15 no assertion criteria provided curation Converted during submission to 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.