ClinVar Miner

Submissions for variant NM_004793.4(LONP1):c.1694A>G (p.Tyr565Cys)

dbSNP: rs1599450036
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
Undiagnosed Diseases Network, NIH RCV004545801 SCV000926959 uncertain significance LONP1-related disorder 2019-02-07 criteria provided, single submitter clinical testing In the literature, this gene has only been associated with recessive conditions. Our patient's disease is thought to be due to a de novo heterozygous variant in LONP1. We have identified other cases with similar presentations and dominant variants.

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.