Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073569 | SCV001239120 | likely pathogenic | Retinal dystrophy | 2019-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001380296 | SCV001578299 | pathogenic | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His263Thrfs*15) in the EYS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant has not been reported in the literature in individuals with EYS-related conditions. |