ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)

gnomAD frequency: 0.00001  dbSNP: rs1245304444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058074 SCV001222615 pathogenic not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1400*) 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: 853292). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074465 SCV001240050 likely pathogenic Retinal dystrophy 2017-08-02 criteria provided, single submitter clinical testing

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