ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) (rs1555282191)

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
Counsyl RCV000666038 SCV000790271 likely pathogenic Wilson disease 2017-03-23 criteria provided, single submitter clinical testing
Invitae RCV000666038 SCV001578535 pathogenic Wilson disease 2020-08-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ATP7B gene (p.Ser1429Valfs*20). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acids of the ATP7B protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 551073). This variant disrupts the C-terminus of the ATP7B protein. Other variant(s) that disrupt this region (p.Arg1459Glyfs*2) have been determined to be pathogenic (PMID: 26799313). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. 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.