ClinVar Miner

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

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Total submissions: 3
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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 2019-11-29 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 and likely results in an absent or disrupted protein product. This variant is present in population databases (rs368159852, ExAC 0.01%). This variant has not been reported in the literature in individuals with EYS-related conditions. Donor and acceptor splice site variants 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). 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

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