ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7970del (p.Asp2657fs)

gnomAD frequency: 0.00001  dbSNP: rs1477098845
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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 RCV001390165 SCV001591802 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp2657Alafs*25) 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 0.002%). 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: 1076301). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002499820 SCV002796821 likely pathogenic Retinitis pigmentosa 25 2021-10-25 criteria provided, single submitter clinical testing

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