ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)

dbSNP: rs1770904723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075632 SCV001241259 likely pathogenic Retinal dystrophy 2019-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001247031 SCV001420428 pathogenic not provided 2024-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2465Tyrfs*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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa ‚Äã (PMID: 32218477). ClinVar contains an entry for this variant (Variation ID: 867095). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462633 SCV004193545 pathogenic Retinitis pigmentosa 25 2024-03-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001075632 SCV004707441 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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