ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3768_3769dup (p.Ser1257fs)

dbSNP: rs2149833352
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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 RCV001389559 SCV001590954 pathogenic not provided 2022-06-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075860). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1257Phefs*21) 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 RCV003469760 SCV004193533 likely pathogenic Retinitis pigmentosa 25 2023-02-13 criteria provided, single submitter clinical testing

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