ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs) (rs797045397)

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
Genetic Services Laboratory, University of Chicago RCV000195012 SCV000246733 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000806050 SCV000946030 pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2018-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu141Alafs*20) in the ATP7A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP7A-related disease. Loss-of-function variants in ATP7A are known to be pathogenic (PMID: 11241493, 20652413). For these reasons, this variant has been classified as Pathogenic.

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.