Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073923 | SCV001239488 | pathogenic | Retinal dystrophy | 2018-06-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090823 | SCV001246564 | pathogenic | not provided | 2020-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001244155 | SCV001417357 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-07-06 | criteria provided, single submitter | clinical testing | 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: 636006). This sequence change affects an acceptor splice site in intron 40 of the CEP290 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with Joubert syndrome, Leber congenital amaurosis, or retinitis pigmentosa (PMID: 17345604, 28559085, 29178642). |
Institute of Medical Genetics and Applied Genomics, |
RCV001090823 | SCV001446874 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001090823 | SCV001756784 | pathogenic | not provided | 2020-11-18 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31734136, 28559085, 29178642, 17564967, 17345604, 25525159, 30718709) |
Fulgent Genetics, |
RCV002493435 | SCV002797483 | pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-04-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003467318 | SCV004216566 | pathogenic | Bardet-Biedl syndrome 14 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV000787560 | SCV000926536 | pathogenic | Leber congenital amaurosis | 2018-04-01 | no assertion criteria provided | research | |
Natera, |
RCV000787560 | SCV002091863 | pathogenic | Leber congenital amaurosis | 2020-08-18 | no assertion criteria provided | clinical testing |