ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter)

dbSNP: rs771920114
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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000234877 SCV000291987 pathogenic Primary ciliary dyskinesia 23 2013-04-03 criteria provided, single submitter research This compound heterzygous mutation was predicted to be loss-of-function.
Labcorp Genetics (formerly Invitae), Labcorp RCV000234877 SCV005835228 pathogenic Primary ciliary dyskinesia 23 2024-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu672*) in the ARMC4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARMC4 are known to be pathogenic (PMID: 23849778). This variant is present in population databases (rs771920114, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of primary ciliary dyskinesia (PMID: 23849778). ClinVar contains an entry for this variant (Variation ID: 242860). 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.