ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.7742A>G (p.Asn2581Ser)

gnomAD frequency: 0.00076  dbSNP: rs200839854
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946343 SCV001092470 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2025-01-23 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV003229605 SCV003927223 uncertain significance Ciliary dyskinesia, primary, 37 2023-04-07 criteria provided, single submitter clinical testing This DNAH1 missense variant (rs200839854) is rare (<0.1%) in a large population dataset (gnomAD v2.1.1: 241/265762 total alleles; 0.091%; no homozygotes). It has been reported in ClinVar (Variation ID 767570), but not in the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging. While the asparagine residue at this position is evolutionarily conserved across many of the species assessed, a few species have a different amino acid at this position including 3 species with serine. The contribution of DNAH1 to primary ciliary dyskinesia has not been confirmed. We consider the clinical significance of c.7742A>G; p.Asn2581Ser in DNAH1 to be uncertain at this time.
GeneDx RCV003328639 SCV004035348 uncertain significance not provided 2023-03-09 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
PreventionGenetics, part of Exact Sciences RCV003411908 SCV004115013 uncertain significance DNAH1-related disorder 2023-06-12 criteria provided, single submitter clinical testing The DNAH1 c.7742A>G variant is predicted to result in the amino acid substitution p.Asn2581Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.21% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-52415789-A-G), which may be too common to be causative of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.