Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090766 | SCV001246478 | pathogenic | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090766 | SCV003252826 | pathogenic | not provided | 2022-04-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser332Glufs*2) 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 premature translational stop signal has been observed in individual(s) with dominant optical atrophy (PMID: 34242285). ClinVar contains an entry for this variant (Variation ID: 871021). For these reasons, this variant has been classified as Pathogenic. |