ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1234del (p.Cys412fs)

dbSNP: rs1765726534
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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 RCV001054484 SCV001218801 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys412Valfs*9) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 850336). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003467776 SCV004195281 likely pathogenic Retinitis pigmentosa 25 2023-05-31 criteria provided, single submitter clinical testing

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