Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817389 | SCV000957944 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1013*) 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 (rs143511261, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with early-onset retinal dystrophy (PMID: 20956273). ClinVar contains an entry for this variant (Variation ID: 660235). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001250612 | SCV004211098 | pathogenic | Leber congenital amaurosis 8 | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics in Ophthalmology, |
RCV001250612 | SCV001425481 | pathogenic | Leber congenital amaurosis 8 | no assertion criteria provided | research |