Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556176 | SCV004293766 | pathogenic | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys2350Alafs*97) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25324289). ClinVar contains an entry for this variant (Variation ID: 143109). For these reasons, this variant has been classified as Pathogenic. |
Dept Of Ophthalmology, |
RCV003888555 | SCV004707449 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132630 | SCV000172581 | probable-pathogenic | Retinitis pigmentosa | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |