Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698642 | SCV000827322 | pathogenic | Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E | 2017-06-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). This variant has not been reported in the literature in individuals with OPTN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys55Alafs*9) in the OPTN gene. It is expected to result in an absent or disrupted protein product. |