ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.504_580del (p.Cys169fs)

dbSNP: rs2100821707
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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 RCV001895237 SCV002152789 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2021-04-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys169Leufs*39) 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 is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RPE65-related conditions. For these reasons, this variant has been classified as Pathogenic.

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