ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)

dbSNP: rs1391928253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987731 SCV001137168 pathogenic Retinitis pigmentosa 25 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549684 SCV003325708 pathogenic not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys916*) 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 not present in population databases (gnomAD no frequency). 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: 802239). For these reasons, this variant has been classified as Pathogenic.

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