ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP8):m.8540T>C

dbSNP: rs878852987
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224948 SCV000280644 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854224 SCV000997257 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8540T>C (YP_003024031.1:p.Leu5Pro) variant in MTATP6 gene ( also (YP_003024030.1:p.Cys59Arg) variant in MTATP8 gene ) is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP3

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.