Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000824247 | SCV000965137 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2019-01-29 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 27 of the CEP290 gene. It does not directly change the encoded amino acid sequence of the CEP290 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with clinical features of CEP290 related disease in one family (Invitae). 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. For these reasons, this variant has been classified as Pathogenic. |