ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter)

dbSNP: rs1054515897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994842 SCV002231235 pathogenic not provided 2022-02-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of EYS-related conditions (PMID: 31054281). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1552*) 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).
Baylor Genetics RCV003471143 SCV004195853 likely pathogenic Retinitis pigmentosa 25 2022-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003471143 SCV005670604 likely pathogenic Retinitis pigmentosa 25 2023-12-29 criteria provided, single submitter clinical testing

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