ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468035 SCV004193501 likely pathogenic Retinitis pigmentosa 25 2024-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003699107 SCV004464731 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1893Argfs*12) 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 present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with EYS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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