ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7016del (p.Cys2339fs)

dbSNP: rs2149792238
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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 RCV001886090 SCV002144871 pathogenic not provided 2021-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2339Leufs*108) 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 (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with EYS-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005038420 SCV005673257 likely pathogenic Retinitis pigmentosa 25 2024-04-28 criteria provided, single submitter clinical testing

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