Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198220 | SCV001369090 | pathogenic | Joubert syndrome 5 | 2019-07-09 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM3,PP4. |
Invitae | RCV001211579 | SCV001383124 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 43 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individual(s) with CEP290-related conditions (PMID: 24265693, 24850569). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 931558). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003469314 | SCV004216573 | pathogenic | Bardet-Biedl syndrome 14 | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828613 | SCV002091855 | pathogenic | Leber congenital amaurosis | 2020-02-13 | no assertion criteria provided | clinical testing |