Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001057875 | SCV001222392 | pathogenic | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu2703*) 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 (rs184722374, gnomAD 0.2%). This premature translational stop signal has been observed in individual(s) with EYS-related conditions (PMID: 24618324, 25356976). ClinVar contains an entry for this variant (Variation ID: 853127). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001073953 | SCV001239518 | pathogenic | Retinal dystrophy | 2018-07-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001260371 | SCV001437328 | pathogenic | Retinitis pigmentosa | 2020-09-28 | criteria provided, single submitter | clinical testing | Variant summary: EYS c.8107G>T (p.Glu2703X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 0.00014 in 153390 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in EYS causing Retinitis Pigmentosa (0.00014 vs 0.0087), allowing no conclusion about variant significance. c.8107G>T has been reported in the literature in individuals affected with Retinitis Pigmentosa (examples- Jinda_2014, Huang_2015, Gao_2019, Chen_2019). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, both citing the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Revvity Omics, |
RCV001784611 | SCV002022252 | pathogenic | Retinitis pigmentosa 25 | 2022-09-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001784611 | SCV002815769 | pathogenic | Retinitis pigmentosa 25 | 2021-09-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001784611 | SCV004192897 | pathogenic | Retinitis pigmentosa 25 | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001260371 | SCV001453306 | pathogenic | Retinitis pigmentosa | 2020-09-16 | no assertion criteria provided | clinical testing |