ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)

dbSNP: rs1764939836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241784 SCV001414827 pathogenic not provided 2023-02-16 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: 966980). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 26787102). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1008*) 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).
CeGaT Center for Human Genetics Tuebingen RCV001241784 SCV001502018 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001828985 SCV002808766 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828985 SCV002084431 pathogenic Retinitis pigmentosa 25 2021-03-22 no assertion criteria provided clinical testing

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