ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)

dbSNP: rs62636295
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000085156 SCV001245621 pathogenic not provided 2020-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001383021 SCV001582029 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu404Alafs*4) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive inherited retinal dystrophy (PMID: 9501220). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as Glu404(4-bp ins). ClinVar contains an entry for this variant (Variation ID: 98831). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003466996 SCV004209231 pathogenic Leber congenital amaurosis 2 2024-03-06 criteria provided, single submitter clinical testing
Retina International RCV000085156 SCV000117293 not provided not provided no assertion provided not provided

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