ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002829784 SCV003214563 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-07-04 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr431*) 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). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005027984 SCV005660858 likely pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 2024-04-09 criteria provided, single submitter clinical testing

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