ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)

dbSNP: rs1645898563
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039691 SCV001203232 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-12-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Cys169*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RPE65-related conditions. Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 18632300).

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