ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3789dup (p.Pro1264fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002996996 SCV003313351 pathogenic not provided 2022-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1264Serfs*4) 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003459694 SCV004195277 likely pathogenic Retinitis pigmentosa 25 2023-06-04 criteria provided, single submitter clinical testing

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