Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155859 | SCV000205570 | pathogenic | Rare genetic deafness | 2013-06-11 | criteria provided, single submitter | clinical testing | The Tyr3715X variant in USH2A has not been reported in individuals with hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 3715, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM). |