ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7048del (p.Cys2350fs)

dbSNP: rs527236069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556176 SCV004293766 pathogenic not provided 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2350Alafs*97) 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 individual(s) with retinitis pigmentosa (PMID: 25324289). ClinVar contains an entry for this variant (Variation ID: 143109). For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV003888555 SCV004707449 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132630 SCV000172581 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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