Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253178 | SCV001428763 | pathogenic | Autosomal dominant optic atrophy classic form | 2019-11-04 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |
Invitae | RCV002570526 | SCV002959564 | pathogenic | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu246*) 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 clinical features of optic atrophy (PMID: 31500643). This variant is also known as c.902T>G (p.Leu301*). ClinVar contains an entry for this variant (Variation ID: 976012). For these reasons, this variant has been classified as Pathogenic. |