ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter)

dbSNP: rs1085307057
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490452 SCV000267219 pathogenic Wilson disease 2016-03-18 criteria provided, single submitter reference population
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000490452 SCV000918586 pathogenic Wilson disease 2018-02-15 criteria provided, single submitter clinical testing Variant summary: ATP7B c.2149C>T (p.Gln717X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.2165dupT (p.Arg723fsX32), c.2304dupC (p.Met769fsX26), and c.2336G>A (p.Trp779X)). The variant was absent in 120726 control chromosomes (ExAC). The variant, c.2149C>T, has been reported in the literature in individuals affected with Wilson Disease, whom are compound heterozygote and homozygote for the variant. These data indicate that the variant may be associated with disease. One ClinVar submission (assessment performed after 2014) classifies the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic.
Genome-Nilou Lab RCV000490452 SCV001977345 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV000490452 SCV002232706 pathogenic Wilson disease 2023-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln717*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 21645214, 23518715). ClinVar contains an entry for this variant (Variation ID: 225299). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000490452 SCV004216301 pathogenic Wilson disease 2023-10-09 criteria provided, single submitter clinical testing

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.