Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067570 | SCV001232638 | pathogenic | Wilson disease | 2019-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser307Alafs*13) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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 been observed in individual(s) with Wilson disease (PMID: 18373411). |