ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)

dbSNP: rs797045339
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193177 SCV000246654 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517056 SCV003445357 pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2022-09-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 210402). This premature translational stop signal has been observed in individual(s) with Menkes disease (PMID: 20652413). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu625*) in the ATP7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7A are known to be pathogenic (PMID: 11241493, 20652413).
Inherited Neuropathy Consortium Ii, University Of Miami RCV000193177 SCV004011912 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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.