Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155845 | SCV000205556 | pathogenic | Rare genetic deafness | 2013-05-13 | criteria provided, single submitter | clinical testing | The Tyr1188X variant in MYO7A has not been reported in individuals with hearing loss or in large population databases. This variant is predicted to result in a premature termination codon at position 1188, which would lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified a s pathogenic (http://pcpgm.partners.org/LMM). |