Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000670601 | SCV000795473 | likely pathogenic | Wilson disease | 2017-11-08 | criteria provided, single submitter | clinical testing | |
| Integrated Genetics/Laboratory Corporation of America | RCV000670601 | SCV000918602 | likely pathogenic | Wilson disease | 2018-09-07 | criteria provided, single submitter | clinical testing | Variant summary: ATP7B c.2428G>T (p.Glu810X) 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. The variant was absent in 246246 control chromosomes (gnomAD). c.2428G>T has been reported in the literature in individuals affected with Wilson Disease (Bost_2012). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from another clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |