Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
INSERM U1051, |
RCV001249878 | SCV001424153 | likely pathogenic | Retinitis pigmentosa | 2020-06-24 | criteria provided, single submitter | research | |
Invitae | RCV002570408 | SCV002972329 | pathogenic | not provided | 2022-04-11 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asn2855Lysfs*5) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 290 amino acid(s) of the EYS protein. 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: 973363). This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr3135*) have been determined to be pathogenic (PMID: 18976725, 30337596). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003469479 | SCV004193554 | likely pathogenic | Retinitis pigmentosa 25 | 2022-12-03 | criteria provided, single submitter | clinical testing |