Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631235 | SCV000752252 | pathogenic | Wilson disease | 2023-11-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn1150Thrfs*5) 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). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 10502777, 15024742). This variant is also known as c.3447delA. ClinVar contains an entry for this variant (Variation ID: 526656). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000631235 | SCV000791317 | likely pathogenic | Wilson disease | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000631235 | SCV001977253 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing |