ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)

dbSNP: rs1582376398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001247577 SCV001785804 pathogenic not provided 2021-04-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20375346)
Fulgent Genetics, Fulgent Genetics RCV002479196 SCV002776756 pathogenic Retinitis pigmentosa 25 2021-12-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV002479196 SCV004192917 pathogenic Retinitis pigmentosa 25 2023-09-30 criteria provided, single submitter clinical testing
Invitae RCV001247577 SCV004547242 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr135Leufs*26) 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 (rs755428941, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 20375346). It has also been observed to segregate with disease in related individuals. This variant is also known as c.403delA,406G>T,410_424del15 (p.Thr135LeufsX25). ClinVar contains an entry for this variant (Variation ID: 812320). For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003029 SCV001161086 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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