ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.3601A>G (p.Lys1201Glu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001290378 SCV001478432 uncertain significance Spermatogenic failure 46 2021-01-19 criteria provided, single submitter clinical testing This DNAH8 variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. One bioinformatic tool queried predicts that this substitution would be damaging, and the lysine residue at this position is highly evolutionarily conserved across all species assessed. We consider the clinical significance of c.3565A>G to be uncertain at this time.

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.