Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670942 | SCV000795864 | pathogenic | Wilson disease | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000670942 | SCV001977346 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670942 | SCV004296492 | pathogenic | Wilson disease | 2023-06-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr715*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555174). This premature translational stop signal has been observed in individual(s) with clinical features of Wilson disease (PMID: 17264425, 24475083). |