ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter)

dbSNP: rs1416709406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002507 SCV002228872 pathogenic not provided 2020-11-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with EYS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys507*) 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).
Baylor Genetics RCV003471144 SCV004193511 likely pathogenic Retinitis pigmentosa 25 2023-03-23 criteria provided, single submitter clinical testing

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