ClinVar Miner

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

dbSNP: rs1766011028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002040255 SCV002289820 likely pathogenic not provided 2023-11-13 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1499530). 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.
Baylor Genetics RCV003464375 SCV004193516 likely pathogenic Retinitis pigmentosa 25 2024-02-06 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888991 SCV004704670 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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