ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.232del (p.Cys78fs)

dbSNP: rs1468020897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213921 SCV001385577 pathogenic not provided 2022-09-06 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 30718709). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 636025). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Cys78Alafs*7) 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).
Baylor Genetics RCV003461061 SCV004195300 pathogenic Retinitis pigmentosa 25 2023-05-01 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787591 SCV000926572 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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