ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1471994744
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043442 SCV001207189 pathogenic not provided 2024-01-02 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. 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 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 29550188). ClinVar contains an entry for this variant (Variation ID: 619215). 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.
Baylor Genetics RCV000758197 SCV004195299 pathogenic Retinitis pigmentosa 25 2023-05-06 criteria provided, single submitter clinical testing
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
Natera, Inc. RCV000758197 SCV002076673 pathogenic Retinitis pigmentosa 25 2020-12-03 no assertion criteria provided clinical testing

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