Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032410 | SCV001195717 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2019-02-07 | criteria provided, single submitter | clinical testing | This variant is a sub-genic deletion of the genomic region encompassing exons 10-11 of the CRB1 gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product. This variant has not been reported in the literature in individuals with CRB1-related conditions. This variant disrupts the C-terminus of the CRB1 protein. Another variant that disrupts this region (p.Arg1390*) have been determined to be pathogenic (PMID:24715753, 23379534, 29068479). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. |