Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068280 | SCV001233381 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2019-12-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 29844330). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys445Tyrfs*8) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. |