ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)

gnomAD frequency: 0.00001  dbSNP: rs527236066
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059640 SCV001224269 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2640*) 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). This variant is present in population databases (rs527236066, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 18836446, 25753737, 27658286). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 143112). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074415 SCV001239997 pathogenic Retinal dystrophy 2019-08-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000678571 SCV004195228 pathogenic Retinitis pigmentosa 25 2023-07-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001074415 SCV004707420 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132633 SCV000172584 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678571 SCV000804650 pathogenic Retinitis pigmentosa 25 2016-09-01 no assertion criteria provided clinical testing
Natera, Inc. RCV000132633 SCV001453308 pathogenic Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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