ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) (rs930421180)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040519 SCV001204098 pathogenic not provided 2019-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1349*) 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 in combination with another EYS variant in several individuals affected with retinitis pigmentosa (PMID: 24265693, 28041643). ClinVar contains an entry for this variant (Variation ID: 438197). Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001040519 SCV001248827 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504982 SCV000599151 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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