Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212734 | SCV001384329 | pathogenic | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2671*) 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 present in population databases (rs527236076, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25356976). ClinVar contains an entry for this variant (Variation ID: 143113). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001826795 | SCV004192896 | pathogenic | Retinitis pigmentosa 25 | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132634 | SCV000172585 | probable-pathogenic | Retinitis pigmentosa | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
Natera, |
RCV001826795 | SCV002083501 | pathogenic | Retinitis pigmentosa 25 | 2021-01-20 | no assertion criteria provided | clinical testing |