ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) (rs61752877)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538669 SCV000644182 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg124*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61752877, ExAC 0.02%). This variant has been observed in individuals affected with Leber congenital amaurosis (PMID: 9501220, 19854499, 20683928). ClinVar contains an entry for this variant (Variation ID: 98866). Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085195 SCV000117332 not provided not provided no assertion provided not provided

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