Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672481 | SCV000797588 | likely pathogenic | Wilson disease | 2018-02-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000672481 | SCV004210666 | likely pathogenic | Wilson disease | 2022-07-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672481 | SCV004389899 | pathogenic | Wilson disease | 2023-05-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met671Ilefs*3) 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). |