ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460092 SCV004195851 likely pathogenic Retinitis pigmentosa 25 2022-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003565673 SCV004321758 pathogenic not provided 2023-09-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EYS-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1048*) 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).

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