Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668398 | SCV000792991 | pathogenic | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668398 | SCV001219454 | pathogenic | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2019-12-31 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 2 of the RPE65 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs61751279, ExAC 0.001%). This variant has been observed to segregate with retinitis pigmentosa in a family and has also been observed in individuals affected with RPE65-related conditions (PMID: 17724218, 21151602, 15024725). ClinVar contains an entry for this variant (Variation ID: 98899). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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. |
Blueprint Genetics | RCV001074560 | SCV001240151 | pathogenic | Retinal dystrophy | 2018-12-18 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085232 | SCV000117369 | not provided | not provided | no assertion provided | not provided | ||
Sharon lab, |
RCV001003189 | SCV001161266 | pathogenic | Leber congenital amaurosis | 2019-06-23 | no assertion criteria provided | research | |
Laboratory of Genetics in Ophthalmology, |
RCV001250674 | SCV001425544 | pathogenic | Leber congenital amaurosis 2 | no assertion criteria provided | research | ||
Natera, |
RCV001003189 | SCV001460415 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |