ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)

gnomAD frequency: 0.00005  dbSNP: rs184722374
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Total submissions: 7
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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, LabCorp 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, Revvity RCV001784611 SCV002022252 pathogenic Retinitis pigmentosa 25 2022-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, 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, Inc. RCV001260371 SCV001453306 pathogenic Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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