ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.749-1G>C

dbSNP: rs368159852
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199690 SCV001162505 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Invitae RCV001035502 SCV001198831 likely pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the EYS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant is present in population databases (rs368159852, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (PMID: 32531858). ClinVar contains an entry for this variant (Variation ID: 813182). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Blueprint Genetics RCV001074982 SCV001240590 likely pathogenic Retinal dystrophy 2017-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505535 SCV002809792 likely pathogenic Retinitis pigmentosa 25 2022-02-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV002505535 SCV004192873 likely pathogenic Retinitis pigmentosa 25 2023-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001199690 SCV001463568 likely pathogenic Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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