Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001924900 | SCV002153247 | pathogenic | not provided | 2023-08-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu165Aspfs*21) 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 variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1384730). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003401828 | SCV004121795 | pathogenic | Retinitis pigmentosa | 2023-10-18 | criteria provided, single submitter | clinical testing | Variant summary: EYS c.492_499delACTAAATG (p.Leu165AspfsX21) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251246 control chromosomes (gnomAD). To our knowledge, no occurrence of c.492_499delACTAAATG in individuals affected with Retinitis Pigmentosa and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited a clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003464203 | SCV004195267 | likely pathogenic | Retinitis pigmentosa 25 | 2023-06-19 | criteria provided, single submitter | clinical testing |