ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)

dbSNP: rs770020484
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 RCV000670601 SCV000795473 likely pathogenic Wilson disease 2017-11-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000670601 SCV000918602 likely pathogenic Wilson disease 2018-09-07 criteria provided, single submitter clinical testing Variant summary: ATP7B c.2428G>T (p.Glu810X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 246246 control chromosomes (gnomAD). c.2428G>T has been reported in the literature in individuals affected with Wilson Disease (Bost_2012). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from another clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV000670601 SCV004296489 pathogenic Wilson disease 2023-05-19 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: 554890). This premature translational stop signal has been observed in individual(s) with clinical features of Wilson disease (PMID: 22677543). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu810*) 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).

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.