ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.694del (p.Arg232fs)

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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 RCV003573386 SCV004353863 pathogenic not provided 2023-06-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg232Glufs*25) 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).
Baylor Genetics RCV004574084 SCV005060473 likely pathogenic Retinitis pigmentosa 25 2024-02-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818370 SCV005068737 pathogenic Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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