Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV000754599 | SCV000845193 | pathogenic | Congenital isolated adrenocorticotropic hormone deficiency | 2018-08-21 | criteria provided, single submitter | research | |
Invitae | RCV001382566 | SCV001581406 | pathogenic | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2023-06-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 587393). This premature translational stop signal has been observed in individuals with inherited retinal dystrophy (PMID: 30576320, 31273949, 31630094). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr275*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 9843205, 18632300). |
Institute of Medical Genetics and Applied Genomics, |
RCV001731903 | SCV001983386 | pathogenic | Retinitis pigmentosa | 2021-10-25 | criteria provided, single submitter | clinical testing |