ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3618_3619del (p.Val1208fs)

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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 RCV003081646 SCV003466601 pathogenic not provided 2022-08-31 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Val1208Serfs*2) 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 has not been reported in the literature in individuals affected with EYS-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003459739 SCV004195224 likely pathogenic Retinitis pigmentosa 25 2023-08-05 criteria provided, single submitter clinical testing

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