ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)

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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 RCV003460067 SCV004195230 likely pathogenic Retinitis pigmentosa 25 2023-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779018 SCV004655054 pathogenic not provided 2023-03-12 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. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Cys860*) 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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