Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ocular Genomics Institute, |
RCV001376503 | SCV001573676 | likely pathogenic | Retinitis pigmentosa 20 | 2021-04-08 | criteria provided, single submitter | research | The RPE65 c.1384G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. |
Labcorp Genetics |
RCV002513922 | SCV003523283 | pathogenic | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2022-12-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 98845). This premature translational stop signal has been observed in individual(s) with autosomal recessive Leber congenital amaurosis and severe early childhood onset retinal dystrophy (PMID: 10766140, 28559085). This sequence change creates a premature translational stop signal (p.Glu462*) 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). |
Baylor Genetics | RCV001250694 | SCV004209281 | pathogenic | Leber congenital amaurosis 2 | 2023-03-14 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085172 | SCV000117309 | not provided | not provided | no assertion provided | not provided | ||
Laboratory of Genetics in Ophthalmology, |
RCV001250694 | SCV001425568 | pathogenic | Leber congenital amaurosis 2 | no assertion criteria provided | research | ||
Zotz- |
RCV001250694 | SCV004171584 | pathogenic | Leber congenital amaurosis 2 | 2023-11-24 | no assertion criteria provided | clinical testing |