Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673015 | SCV000798179 | likely pathogenic | Wilson disease | 2018-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673015 | SCV004296494 | pathogenic | Wilson disease | 2023-03-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556945). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 20491539). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln680*) 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). |