ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) (rs878853349)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055385 SCV001219773 pathogenic not provided 2019-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val944Glyfs*9) 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 individual(s) with autosomal recessive retinitis pigmentosa (PMID: 26806561, 28704921). ClinVar contains an entry for this variant (Variation ID: 236446). Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000225412 SCV001240042 pathogenic Retinal dystrophy 2017-05-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001055385 SCV001248829 pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
INSERM U1051, Institut des Neurosciences de Montpellier RCV001249880 SCV001424155 pathogenic Retinitis pigmentosa 2020-06-24 criteria provided, single submitter research
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225412 SCV000282552 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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