ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) (rs148891849)

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
GeneDx RCV000766911 SCV000619150 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing The R1761G variant in the DNAH5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1761G variant is observed in 111/10090 (1.1%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The R1761G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R1761G as a variant of uncertain significance.
Invitae RCV000468797 SCV000558009 benign Primary ciliary dyskinesia 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242807 SCV000307789 benign not specified 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.