ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3878-2A>G

gnomAD frequency: 0.00004  dbSNP: rs752930400
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762418 SCV000892733 likely pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000762418 SCV000960240 likely pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 25 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 (rs752930400, gnomAD 0.02%). 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: 624253). 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.
Fulgent Genetics, Fulgent Genetics RCV002493393 SCV002794807 likely pathogenic Retinitis pigmentosa 25 2022-03-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002493393 SCV003831054 likely pathogenic Retinitis pigmentosa 25 2022-03-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV002493393 SCV004192890 likely pathogenic Retinitis pigmentosa 25 2023-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274884 SCV001459432 likely pathogenic Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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