ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs)

dbSNP: rs1583277585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987730 SCV001137167 pathogenic Retinitis pigmentosa 25 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869349 SCV002239508 pathogenic not provided 2021-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly941Metfs*11) 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 (ExAC 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: 802238). For these reasons, this variant has been classified as Pathogenic.

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