Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000190567 | SCV000245580 | pathogenic | Wilson disease | 2015-02-25 | criteria provided, single submitter | clinical testing | The p.Gly128GlufsX25 variant in ATP7B has not been previously reported in individuals with Wilson disease and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 128 and leads to a premature termination codon 25 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Complete loss of ATP7B function is an established disease mechanism for Wilson disease. In summary, this variant meets our criteria to be classified as pathogenic for Wilson disease in an autosomal recessive manner. |
Genome- |
RCV000190567 | SCV001977403 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing |