Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821119 | SCV000961863 | pathogenic | Wilson disease | 2023-04-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val387Alafs*17) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 663269). 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). |
Genome- |
RCV000821119 | SCV001977381 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000821119 | SCV004238484 | likely pathogenic | Wilson disease | 2023-04-19 | criteria provided, single submitter | clinical testing |