ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) (rs1471994744)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043442 SCV001207189 pathogenic not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys436*) in the EYS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with autosomal recessive retinitis pigmentosa (PMID: 29550188). ClinVar contains an entry for this variant (Variation ID: 619215). Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075396 SCV001241018 pathogenic Retinal dystrophy 2018-07-18 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000758197 SCV001573257 pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.1308C>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PS1. Based on this evidence we have classified this variant as Pathogenic.
Sema4, Sema4 RCV000758197 SCV000886508 likely pathogenic Retinitis pigmentosa 25 2018-10-25 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003028 SCV001161084 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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