ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)

gnomAD frequency: 0.00001  dbSNP: rs909730457
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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 RCV001075654 SCV001241281 likely pathogenic Retinal dystrophy 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382260 SCV001580940 pathogenic not provided 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1652*) 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 0.002%). This premature translational stop signal has been observed in individual(s) with EYS-related conditions (PMID: 28559085, 29159838). ClinVar contains an entry for this variant (Variation ID: 867110). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462634 SCV004192885 pathogenic Retinitis pigmentosa 25 2024-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003462634 SCV005670598 likely pathogenic Retinitis pigmentosa 25 2024-03-12 criteria provided, single submitter clinical testing

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