ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter)

dbSNP: rs2149831862
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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 RCV002002483 SCV002231242 pathogenic not provided 2021-10-13 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 sequence change creates a premature translational stop signal (p.Trp1587*) 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 (ExAC no frequency).
CeGaT Center for Human Genetics Tuebingen RCV002002483 SCV002563905 pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing EYS: PVS1, PM2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816822 SCV005068398 pathogenic Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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