ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)

gnomAD frequency: 0.00001  dbSNP: rs527236076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212734 SCV001384329 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2671*) 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 present in population databases (rs527236076, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 25356976). ClinVar contains an entry for this variant (Variation ID: 143113). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001826795 SCV004192896 pathogenic Retinitis pigmentosa 25 2023-10-10 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132634 SCV000172585 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Natera, Inc. RCV001826795 SCV002083501 pathogenic Retinitis pigmentosa 25 2021-01-20 no assertion criteria provided clinical testing

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