Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490452 | SCV000267219 | pathogenic | Wilson disease | 2016-03-18 | criteria provided, single submitter | reference population | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000490452 | SCV000918586 | pathogenic | Wilson disease | 2018-02-15 | criteria provided, single submitter | clinical testing | Variant summary: ATP7B c.2149C>T (p.Gln717X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.2165dupT (p.Arg723fsX32), c.2304dupC (p.Met769fsX26), and c.2336G>A (p.Trp779X)). The variant was absent in 120726 control chromosomes (ExAC). The variant, c.2149C>T, has been reported in the literature in individuals affected with Wilson Disease, whom are compound heterozygote and homozygote for the variant. These data indicate that the variant may be associated with disease. One ClinVar submission (assessment performed after 2014) classifies the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic. |
Genome- |
RCV000490452 | SCV001977345 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000490452 | SCV002232706 | pathogenic | Wilson disease | 2023-02-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln717*) 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: 21645214, 23518715). ClinVar contains an entry for this variant (Variation ID: 225299). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000490452 | SCV004216301 | pathogenic | Wilson disease | 2023-10-09 | criteria provided, single submitter | clinical testing |