Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263752 | SCV001441845 | likely pathogenic | Wilson disease | 2019-11-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001263752 | SCV001580267 | pathogenic | Wilson disease | 2020-08-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys1079*) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). This variant has not been reported in the literature in individuals with ATP7B-related conditions. This variant is not present in population databases (ExAC no frequency). |
Genome- |
RCV001263752 | SCV001977264 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing |