ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3349dup (p.Ser1117fs)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002594688 SCV002956415 pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1117Lysfs*3) 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 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: 1919174). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464573 SCV004195302 likely pathogenic Retinitis pigmentosa 25 2023-04-26 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003464573 SCV005091007 likely pathogenic Retinitis pigmentosa 25 2023-05-17 criteria provided, single submitter clinical testing PVS1, PM2 - 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)
Fulgent Genetics, Fulgent Genetics RCV003464573 SCV005670619 likely pathogenic Retinitis pigmentosa 25 2024-02-27 criteria provided, single submitter clinical testing

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