Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000555880 | SCV000634663 | likely pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-02-15 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 46 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 (rs766670248, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 461787). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Fulgent Genetics, |
RCV002491001 | SCV002791783 | likely pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2024-03-01 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003470742 | SCV004214855 | likely pathogenic | Bardet-Biedl syndrome 14 | 2024-03-04 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001276485 | SCV001462864 | likely pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |