ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055385 SCV001219773 pathogenic not provided 2020-01-29 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
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376517 SCV001573694 pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.2826_2827del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PS1, PM3. Based on this evidence we have classified this variant as Pathogenic.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225412 SCV000282552 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Natera, Inc. RCV001249880 SCV001459439 pathogenic Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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