ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)

dbSNP: rs794727120
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174711 SCV000226065 pathogenic not provided 2015-01-20 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075263 SCV001240878 likely pathogenic Retinal dystrophy 2017-08-28 criteria provided, single submitter clinical testing
Invitae RCV000174711 SCV001395174 pathogenic not provided 2023-05-31 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 23591405). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 194358). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln732*) 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).
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001723749 SCV001950271 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Gln732Ter 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. Based on this evidence we have classified this variant as Likely Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Fulgent Genetics, Fulgent Genetics RCV001826878 SCV002809877 pathogenic Retinitis pigmentosa 25 2021-12-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001826878 SCV004195293 pathogenic Retinitis pigmentosa 25 2023-05-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826878 SCV002076648 pathogenic Retinitis pigmentosa 25 2021-04-16 no assertion criteria provided clinical testing

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