ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.383del (p.Gly128fs)

dbSNP: rs797045083
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190567 SCV000245580 pathogenic Wilson disease 2015-02-25 criteria provided, single submitter clinical testing The p.Gly128GlufsX25 variant in ATP7B has not been previously reported in individuals with Wilson disease and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 128 and leads to a premature termination codon 25 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Complete loss of ATP7B function is an established disease mechanism for Wilson disease. In summary, this variant meets our criteria to be classified as pathogenic for Wilson disease in an autosomal recessive manner.
Genome-Nilou Lab RCV000190567 SCV001977403 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.