Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388365 | SCV001589301 | pathogenic | not provided | 2021-11-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln678Lysfs*8) in the OPA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPA1 are known to be pathogenic (PMID: 11440988, 20157015, 20952381, 25012220). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OPA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1074919). For these reasons, this variant has been classified as Pathogenic. |