Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216826 | SCV000271470 | pathogenic | Rare genetic deafness | 2015-06-16 | criteria provided, single submitter | clinical testing | The p.Glu4571X variant in USH2A has not been previously reported in individuals with hearing loss Usher syndrome, and it was absent from large population studie s. This nonsense variant leads to a premature termination codon at position 4571 , which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for Usher syndrome in an autosomal recessive manner. |