ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter)

dbSNP: rs774464019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221842 SCV001393909 pathogenic not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys493*) 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 (no rsID available, gnomAD 0.003%). 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: 950186). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003145415 SCV003831043 likely pathogenic Retinitis pigmentosa 25 2022-11-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003145415 SCV004193540 likely pathogenic Retinitis pigmentosa 25 2024-02-22 criteria provided, single submitter clinical testing

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