Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV003485955 | SCV004232423 | pathogenic | Autosomal dominant optic atrophy classic form | 2024-01-23 | criteria provided, single submitter | clinical testing | The variant c.2440del (p.(Ile814*)) in exon 24 of the OPA1 gene is not found in the gnomAD database and changes the protein sequence starting at position 814 and interrupts the reading frame prematurely. It was found in a patient with the clinical diagnosis of optic atrophy. ACMG criteria used for classification: PVS1, PM2_supp, PP4. |