ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)

dbSNP: rs750840208
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667905 SCV000792429 likely pathogenic Retinitis pigmentosa 25 2017-06-22 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073812 SCV001239374 likely pathogenic Retinal dystrophy 2018-04-18 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000667905 SCV001573288 pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.4393dup 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, PP1. Based on this evidence we have classified this variant as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001868218 SCV002216376 pathogenic not provided 2024-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1465Glyfs*6) 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 present in population databases (rs750840208, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 552610). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000667905 SCV004192870 likely pathogenic Retinitis pigmentosa 25 2023-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000667905 SCV005670607 likely pathogenic Retinitis pigmentosa 25 2024-04-11 criteria provided, single submitter clinical testing

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