ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)

gnomAD frequency: 0.00001  dbSNP: rs1245121527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074342 SCV001239917 likely pathogenic Retinal dystrophy 2019-07-16 criteria provided, single submitter clinical testing
Invitae RCV001387925 SCV001588682 pathogenic not provided 2023-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr988*) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 866396). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462630 SCV004193569 likely pathogenic Retinitis pigmentosa 25 2022-08-26 criteria provided, single submitter clinical testing

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