ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)

dbSNP: rs1057516380
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
Counsyl RCV000411738 SCV000485559 likely pathogenic Wilson disease 2016-01-14 criteria provided, single submitter clinical testing
Invitae RCV000411738 SCV001374164 pathogenic Wilson disease 2023-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr719*) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wilson's disease (PMID: 27022412, 30655162). ClinVar contains an entry for this variant (Variation ID: 370295). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000411738 SCV001977344 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing

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.