ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.803del (p.Gly268fs)

dbSNP: rs1766006937
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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 RCV001073571 SCV001239122 likely pathogenic Retinal dystrophy 2019-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862506 SCV002234653 pathogenic not provided 2022-05-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly268Glufs*71) 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: 865955). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469272 SCV004192920 likely pathogenic Retinitis pigmentosa 25 2023-09-26 criteria provided, single submitter clinical testing

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