ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)

dbSNP: rs2149802267
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389723 SCV001591175 pathogenic not provided 2022-07-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1075992). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Thr2271Argfs*11) 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).
DBGen Ocular Genomics RCV001587393 SCV001816102 pathogenic Retinitis pigmentosa 25 2021-06-07 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724309 SCV001950273 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Thr2271ArgfsTer11 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.
Baylor Genetics RCV001587393 SCV004195214 likely pathogenic Retinitis pigmentosa 25 2023-08-12 criteria provided, single submitter clinical testing

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