Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000760151 | SCV000889962 | pathogenic | Retinitis pigmentosa 25 | 2016-05-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002533833 | SCV003228714 | pathogenic | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 619959). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This sequence change creates a premature translational stop signal (p.Trp2090*) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). |