Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001388581 | SCV001589633 | pathogenic | Aniridia 1; Irido-corneo-trabecular dysgenesis | 2020-03-02 | criteria provided, single submitter | clinical testing | Loss-of-function variants in PAX6 are known to be pathogenic (PMID: 12634864). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PAX6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu228Serfs*16) in the PAX6 gene. It is expected to result in an absent or disrupted protein product. |