ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys)

dbSNP: rs1957150974
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174943 SCV001338396 uncertain significance not specified 2020-02-27 criteria provided, single submitter clinical testing Variant summary: ATP7B c.3695_3697delCCC (p.Thr1232_Gln1233delinsLys) results in an in-frame deletion-insertion that is predicted to delete one amino acid from the protein and also cause changes in one amino acid. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 249572 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3695_3697delCCC in individuals affected with Wilson Disease and no experimental evidence demonstrating an impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.