ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter)

dbSNP: rs527236072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001849952 SCV002160951 pathogenic not provided 2023-03-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 143101). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 26155838, 28763560). This sequence change creates a premature translational stop signal (p.Glu584*) 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 RCV003462050 SCV004195314 pathogenic Retinitis pigmentosa 25 2023-04-07 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132622 SCV000172573 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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