Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000585137 | SCV000693213 | likely pathogenic | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001199692 | SCV001162507 | pathogenic | Retinitis pigmentosa | 2020-01-09 | criteria provided, single submitter | research | |
Invitae | RCV000585137 | SCV003786476 | pathogenic | not provided | 2022-03-18 | 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: 493434). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 30543658). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2931Hisfs*43) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 214 amino acid(s) of the EYS protein. |
Baylor Genetics | RCV000735708 | SCV004192868 | pathogenic | Retinitis pigmentosa 25 | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003889927 | SCV004707392 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000735708 | SCV000863856 | pathogenic | Retinitis pigmentosa 25 | 2018-04-30 | no assertion criteria provided | clinical testing |