ClinVar Miner

Submissions for variant NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) (rs62642583)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics and Genomics Laboratory,Medical University of South Carolina RCV000754976 SCV000803386 pathogenic Leber congenital amaurosis 2018-06-01 criteria provided, single submitter research
Invitae RCV000815030 SCV000955471 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2020-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile98Hisfs*26) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in several individuals affected with RPE65-related conditions (PMID: 10766140, 28181551). ClinVar contains an entry for this variant (Variation ID: 98860). 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.
Mendelics RCV000986333 SCV001135306 pathogenic Leber congenital amaurosis 2 2019-05-28 criteria provided, single submitter clinical testing
Retina International RCV000085189 SCV000117326 not provided not provided no assertion provided not provided

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