ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3413-1G>C

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
All of Us Research Program, National Institutes of Health RCV004807751 SCV005429499 uncertain significance Wilson disease 2024-03-24 criteria provided, single submitter clinical testing This variant causes a c.G>C nucleotide substitution at the -1 position of intron 15 of the ATP7B gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. To our knowledge, this prediction has not been investigated in published RNA studies. This variant has not been reported in individuals affected with ATP7B-related conditions in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Due to insufficient evidence, this variant is classified as Variant of 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.