Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169259 | SCV000220548 | likely pathogenic | Wilson disease | 2014-07-24 | criteria provided, single submitter | literature only | |
Invitae | RCV000169259 | SCV002228126 | pathogenic | Wilson disease | 2023-07-25 | 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: 188899). This premature translational stop signal has been observed in individual(s) with clinical features of Wilson disease (PMID: 9671269, 15952988, 31708252). This variant is present in population databases (rs774221179, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln111*) 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). |
Baylor Genetics | RCV000169259 | SCV004210688 | pathogenic | Wilson disease | 2022-02-02 | criteria provided, single submitter | clinical testing |