ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs)

dbSNP: rs1645945978
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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 RCV001051752 SCV001215928 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe50Glnfs*3) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 848072). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. This variant is not present in population databases (gnomAD no frequency).

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