ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) (rs779983752)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779514 SCV000916158 likely pathogenic Retinitis pigmentosa 2019-01-09 criteria provided, single submitter clinical testing The EYS c.8111T>G (p.Leu2704Ter) stop-gained variant has been reported in one study and identified in two compound heterozygotes with retinitis pigmentosa (Sengillo et al. 2018). One of the individuals had a second frameshift variant and the other had a second missense variant. Control data are unavailable for this variant which is reported at a frequency of 0.000080 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the evidence, the p.Leu2704Ter variant is classified as likely pathogenic for autosomal recessive retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000791712 SCV000930972 pathogenic not provided 2019-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2704*) in the EYS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779983752, ExAC 0.01%). This variant has been observed in an individual affected with retinitis pigmentosa (PMID: 29550188). 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 RCV001074431 SCV001240015 likely pathogenic Retinal dystrophy 2017-02-15 criteria provided, single submitter clinical testing

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