ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3970del (p.Leu1324fs)

gnomAD frequency: 0.00001  dbSNP: rs1431710414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050362 SCV001214464 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1324Serfs*4) 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: 846934). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002505595 SCV002812156 likely pathogenic Retinitis pigmentosa 25 2022-02-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV002505595 SCV004193519 likely pathogenic Retinitis pigmentosa 25 2023-12-06 criteria provided, single submitter clinical testing

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