ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter)

dbSNP: rs1562263385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760151 SCV000889962 pathogenic Retinitis pigmentosa 25 2016-05-13 criteria provided, single submitter clinical testing
Invitae RCV002533833 SCV003228714 pathogenic not provided 2022-09-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 619959). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This sequence change creates a premature translational stop signal (p.Trp2090*) 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).

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