Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cytogenetics and Genomics Laboratory, |
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 |