Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482751 | SCV000572384 | pathogenic | not provided | 2016-12-09 | criteria provided, single submitter | clinical testing | The c.7654delG variant in the EYS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.7654delG variant causes a frameshift, changing codon Valine 2552 to a premature Stop codon, denoted p.Val2552Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7654delG variant was not observed in approximately 2300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.7654delG as a pathogenic variant. |
Ocular Genomics Institute, |
RCV001376257 | SCV001573336 | pathogenic | Retinitis pigmentosa 25 | 2021-04-08 | criteria provided, single submitter | research | The EYS c.7654del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PS1. Based on this evidence we have classified this variant as Pathogenic. |
Invitae | RCV000482751 | SCV001581707 | pathogenic | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 422819). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val2552*) 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). |