Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000757242 | SCV001591318 | pathogenic | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr3135*) have been determined to be pathogenic (PMID: 18976725, 29159838, 30337596, 31074760). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 618633). This variant is also known as c.8244_8245insT. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25356976). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Leu2748Phefs*8) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 397 amino acid(s) of the EYS protein. |
Baylor Genetics | RCV003465676 | SCV004192907 | pathogenic | Retinitis pigmentosa 25 | 2023-10-07 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003889974 | SCV004707408 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |