ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)

dbSNP: rs1767699695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074458 SCV001240043 likely pathogenic Retinal dystrophy 2017-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862560 SCV002152808 pathogenic not provided 2022-10-07 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: 866441). 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.Lys885*) 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 RCV003462631 SCV004193567 likely pathogenic Retinitis pigmentosa 25 2022-09-07 criteria provided, single submitter clinical testing

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