ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.10del (p.Gln4fs)

dbSNP: rs747393487
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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 RCV000689657 SCV000817320 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4Argfs*27) 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 present in population databases (rs747393487, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. ClinVar contains an entry for this variant (Variation ID: 569113). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465570 SCV004209252 likely pathogenic Leber congenital amaurosis 2 2024-02-24 criteria provided, single submitter clinical testing

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