ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.399del (p.Trp133fs)

dbSNP: rs1345848733
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
GeneDx RCV001008248 SCV001168014 likely pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing The c.399delG variant in the ATP7B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a nonsense variant at this same codon (W133X) has been reported in an individual with Wilson disease, however additional information on if a second ATP7B variant was seen in this individual was not provided (Cheng et al., 2017). The c.399delG variant causes a frameshift starting with codon Tryptophan 133, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Trp133CysfsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.399delG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.399delG as a likely pathogenic variant.

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.