ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)

dbSNP: rs1455826633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199685 SCV001162499 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Invitae RCV001234571 SCV001407223 pathogenic not provided 2023-09-21 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: 813177). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile1935Tyrfs*6) 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 RCV001836061 SCV004195288 likely pathogenic Retinitis pigmentosa 25 2023-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836061 SCV002084342 pathogenic Retinitis pigmentosa 25 2020-10-08 no assertion criteria provided clinical testing

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