ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7277dup (p.Tyr2426Ter)

gnomAD frequency: 0.00001  dbSNP: rs1303821903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930585 SCV002189829 pathogenic not provided 2024-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2426*) 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: 1414663). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571606 SCV005060504 likely pathogenic Retinitis pigmentosa 25 2023-12-12 criteria provided, single submitter clinical testing

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