ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)

dbSNP: rs988133284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research 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, University Hospital Tübingen RCV001731903 SCV001983386 pathogenic Retinitis pigmentosa 2021-10-25 criteria provided, single submitter clinical testing

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