ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) (rs794727120)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174711 SCV000226065 pathogenic not provided 2015-01-20 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075263 SCV001240878 likely pathogenic Retinal dystrophy 2017-08-28 criteria provided, single submitter clinical testing
Invitae RCV000174711 SCV001395174 pathogenic not provided 2019-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln732*) 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). This variant has been observed to be homozygous in an individual affected with retinitis pigmentosa (PMID: 23591405). ClinVar contains an entry for this variant (Variation ID: 194358). Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). For these reasons, this variant has been classified as Pathogenic.

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