ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) (rs61752895)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236263 SCV001408979 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg234*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61752895, ExAC 0.003%). This variant has been observed in individual(s) with inherited retinal dystrophy (PMID: 9326927, 30268864). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13114). Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 18632300). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013993 SCV000034240 pathogenic Leber congenital amaurosis 2 1997-10-01 no assertion criteria provided literature only
Retina International RCV000085219 SCV000117356 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV000013993 SCV001425558 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research

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