ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) (rs193922110)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029378 SCV000052026 likely pathogenic Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Counsyl RCV000029378 SCV000220454 likely pathogenic Wilson disease 2014-06-25 criteria provided, single submitter literature only
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415977 SCV000493528 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000415977 SCV000748221 likely pathogenic not provided 2018-04-04 criteria provided, single submitter clinical testing The W1353X variant in the ATP7B gene has been reported previously in association with Wilson disease, however it was identified in a single allele among a cohort of unrelated affected patients without information about zygosity (Curtis et al., 1999). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W1353X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret W1353X as a likely pathogenic variant.
Invitae RCV000029378 SCV000836786 pathogenic Wilson disease 2019-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1353*) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs193922110, ExAC 0.002%). This variant has been observed in an individual affected with Wilson disease (PMID: 10502777). ClinVar contains an entry for this variant (Variation ID: 35729). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). 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.