Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000591738 | SCV000709747 | pathogenic | Usher syndrome | 2018-03-07 | criteria provided, single submitter | clinical testing | The deletion encompassing exons 21-33 of USH2A has been identified by our laboratory in 1 child with hearing loss who carried a second, pathogenic variant in the same gene. It was absent from large population studies. This deletion is predicted to cause a frameshift, resulting in a truncated or absent protein. Loss of function of the USH2A gene is an established disease mechanism in Usher syndrome. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome. |