ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3266del (p.Met1089fs)

gnomAD frequency: 0.00003  dbSNP: rs1329066633
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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 RCV001389879 SCV001591401 pathogenic not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1089Argfs*74) 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 (no rsID available, gnomAD 0.02%). 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: 1076098). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003463032 SCV004195313 likely pathogenic Retinitis pigmentosa 25 2023-04-08 criteria provided, single submitter clinical testing

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