ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)

dbSNP: rs878853350
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000225657 SCV001239377 pathogenic Retinal dystrophy 2018-04-18 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001003018 SCV001950258 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Trp2046Ter variant in EYS was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP1. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Labcorp Genetics (formerly Invitae), Labcorp RCV001854796 SCV002159082 pathogenic not provided 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 236448). This premature translational stop signal has been observed in individual(s) with retinal dystrophy (PMID: 27208204, 28418496). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2046*) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770).
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225657 SCV000282554 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003018 SCV001161073 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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