Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411738 | SCV000485559 | likely pathogenic | Wilson disease | 2016-01-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411738 | SCV001374164 | pathogenic | Wilson disease | 2023-10-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr719*) 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's disease (PMID: 27022412, 30655162). ClinVar contains an entry for this variant (Variation ID: 370295). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000411738 | SCV001977344 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing |