ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.786dup (p.His263fs)

dbSNP: rs1766009155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073569 SCV001239120 likely pathogenic Retinal dystrophy 2019-06-28 criteria provided, single submitter clinical testing
Invitae RCV001380296 SCV001578299 pathogenic not provided 2020-03-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His263Thrfs*15) 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). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant has not been reported in the literature in individuals with EYS-related conditions.

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