ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter)

dbSNP: rs1239806410
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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 RCV001382261 SCV001580941 pathogenic not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1191*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 29785639; internal data). ClinVar contains an entry for this variant (Variation ID: 1070197). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469673 SCV004193568 pathogenic Retinitis pigmentosa 25 2022-08-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003469673 SCV005670615 likely pathogenic Retinitis pigmentosa 25 2024-01-10 criteria provided, single submitter clinical testing

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