Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000282712 | SCV000335430 | pathogenic | not provided | 2015-10-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000282712 | SCV001373751 | pathogenic | not provided | 2023-09-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 283384). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg1537Thrfs*10) 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). |
| Gene |
RCV000282712 | SCV004040154 | pathogenic | not provided | 2023-03-25 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign in association with EYS-related retinitis pigmentosa to our knowledge; This variant is associated with the following publications: (PMID: 31964843) |
| Baylor Genetics | RCV001833328 | SCV004195239 | likely pathogenic | Retinitis pigmentosa 25 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001833328 | SCV002084377 | pathogenic | Retinitis pigmentosa 25 | 2021-06-14 | no assertion criteria provided | clinical testing |