Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043442 | SCV001207189 | pathogenic | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys436*) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 29550188). ClinVar contains an entry for this variant (Variation ID: 619215). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001075396 | SCV001241018 | pathogenic | Retinal dystrophy | 2018-07-18 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV000758197 | SCV001573257 | pathogenic | Retinitis pigmentosa 25 | 2021-04-08 | criteria provided, single submitter | research | The EYS c.1308C>A 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. |
Baylor Genetics | RCV000758197 | SCV004195299 | pathogenic | Retinitis pigmentosa 25 | 2023-05-06 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000758197 | SCV000886508 | likely pathogenic | Retinitis pigmentosa 25 | 2018-10-25 | no assertion criteria provided | clinical testing | |
Sharon lab, |
RCV001003028 | SCV001161084 | pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research | |
Natera, |
RCV000758197 | SCV002076673 | pathogenic | Retinitis pigmentosa 25 | 2020-12-03 | no assertion criteria provided | clinical testing |