Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002010739 | SCV002294145 | likely pathogenic | not provided | 2021-10-13 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 7 of the CEP250 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 CEP250 are known to be pathogenic (PMID: 24780881, 29718797). This variant is not present in population databases (ExAC no frequency). 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. This variant has not been reported in the literature in individuals affected with CEP250-related conditions. |