Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230756 | SCV001403247 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln860Lysfs*22) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 957724). For these reasons, this variant has been classified as Pathogenic. |