ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3862dup (p.Tyr1288fs)

dbSNP: rs2149833264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385046 SCV001584756 pathogenic not provided 2020-09-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EYS-related conditions. This sequence change creates a premature translational stop signal (p.Tyr1288Leufs*4) in the EYS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469712 SCV004193505 likely pathogenic Retinitis pigmentosa 25 2023-03-27 criteria provided, single submitter clinical testing

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