ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)

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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 RCV003460072 SCV004195257 likely pathogenic Retinitis pigmentosa 25 2023-07-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779020 SCV004652643 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1060*) 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. For these reasons, this variant has been classified as Pathogenic.

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