ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002613395 SCV002955601 pathogenic not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1296*) 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 variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1921921). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475402 SCV004193507 likely pathogenic Retinitis pigmentosa 25 2023-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003475402 SCV005670612 likely pathogenic Retinitis pigmentosa 25 2024-01-30 criteria provided, single submitter clinical testing

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