ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1480C>T (p.Gln494Ter)

dbSNP: rs1207818522
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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 RCV001892459 SCV002147584 pathogenic not provided 2023-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1383249). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln494*) 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).
Baylor Genetics RCV004571519 SCV005060469 likely pathogenic Retinitis pigmentosa 25 2024-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV004571519 SCV005672755 likely pathogenic Retinitis pigmentosa 25 2024-04-10 criteria provided, single submitter clinical testing

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