ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)

gnomAD frequency: 0.00001  dbSNP: rs1389794536
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047737 SCV001211717 pathogenic not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1001*) 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 present in population databases (no rsID available, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with EYS-related conditions (PMID: 20333770, 21519034). ClinVar contains an entry for this variant (Variation ID: 844797). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073224 SCV001238760 likely pathogenic Retinal dystrophy 2018-08-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV001827300 SCV004195296 pathogenic Retinitis pigmentosa 25 2023-05-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827300 SCV002084434 pathogenic Retinitis pigmentosa 25 2021-04-15 no assertion criteria provided clinical testing

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