Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673196 | SCV000798372 | likely pathogenic | Wilson disease | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673196 | SCV001414451 | 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: 557104). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 2677543, 16283883, 30230192). This variant is present in population databases (rs778490238, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln355*) 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). |
Genome- |
RCV000673196 | SCV001977386 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003106017 | SCV003761763 | pathogenic | not provided | 2022-07-26 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 18371106, 30230192, 22677543, 16283883) |
Ce |
RCV003106017 | SCV004010248 | pathogenic | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ATP7B: PVS1, PM2, PM3 |