ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)

gnomAD frequency: 0.00001  dbSNP: rs137853189
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387157 SCV001587710 pathogenic not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1953*) 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: 18836446). ClinVar contains an entry for this variant (Variation ID: 537). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000000567 SCV002519636 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000000567 SCV004195857 pathogenic Retinitis pigmentosa 25 2021-12-22 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000000567 SCV004562042 pathogenic Retinitis pigmentosa 25 2024-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000000567 SCV005670589 pathogenic Retinitis pigmentosa 25 2024-05-31 criteria provided, single submitter clinical testing
OMIM RCV000000567 SCV000020716 pathogenic Retinitis pigmentosa 25 2008-11-01 no assertion criteria provided literature only

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