ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter)

dbSNP: rs1769936722
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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 RCV001038072 SCV001201518 pathogenic not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr550*) 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: 836856). 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).
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376342 SCV001573457 pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.1650T>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3. Based on this evidence we have classified this variant as Pathogenic.

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