ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.3574G>A (p.Glu1192Lys)

gnomAD frequency: 0.00001  dbSNP: rs773780728
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000655818 SCV000777749 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2019-04-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DNAH1-related disease. This variant is present in population databases (rs773780728, ExAC 0.04%). This sequence change replaces glutamic acid with lysine at codon 1192 of the DNAH1 protein (p.Glu1192Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
GeneDx RCV004777809 SCV005391028 uncertain significance not provided 2024-05-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.