ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)

dbSNP: rs749410700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001701433 SCV003328534 pathogenic not provided 2022-03-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 560453). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln35*) 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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678561 SCV000804640 pathogenic Retinitis pigmentosa 25 2016-09-01 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701433 SCV001922284 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701433 SCV001958705 pathogenic not provided no assertion criteria provided clinical testing

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