ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.289C>T (p.Gln97Ter)

dbSNP: rs1766202141
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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 RCV001912151 SCV002145836 pathogenic not provided 2023-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln97*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1377018). 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).
Baylor Genetics RCV003470984 SCV004193583 likely pathogenic Retinitis pigmentosa 25 2022-07-08 criteria provided, single submitter clinical testing

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