Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000411554 | SCV000485590 | likely pathogenic | Wilson disease | 2016-01-14 | criteria provided, single submitter | clinical testing | |
| Integrated Genetics/Laboratory Corporation of America | RCV000411554 | SCV000918608 | pathogenic | Wilson disease | 2018-12-10 | criteria provided, single submitter | clinical testing | Variant summary: ATP7B c.1470C>A (p.Cys490X) 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. p.Gln511X, p.Ile582fsX25, p.Gln717X). The variant was absent in 246092 control chromosomes. c.1470C>A has been reported in the literature in multiple individuals affected with Wilson Disease (Tsai_1999, Cheng_2017). These data indicate that the variant is very likely to be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |