Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031906 | SCV001195213 | pathogenic | Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E | 2019-05-29 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the OPTN gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed to segregate with amyotrophic lateral sclerosis in a family (PMID: 20428114). Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). For these reasons, this variant has been classified as Pathogenic. |