ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.5185A>C (p.Lys1729Gln) (rs148767488)

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 RCV000467222 SCV000546394 uncertain significance Primary ciliary dyskinesia 2020-09-18 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 1729 of the DNAH8 protein (p.Lys1729Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs148767488, ExAC 0.04%) but has not been reported in the literature in individuals with a DNAH8-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, Align-GVGD) suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV000467222 SCV001431755 uncertain significance Primary ciliary dyskinesia 2018-10-12 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.