ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)

gnomAD frequency: 0.00001  dbSNP: rs1305702728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987727 SCV001137161 pathogenic Retinitis pigmentosa 25 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382289 SCV001580971 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1551*) 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 variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 802235). For these reasons, this variant has been classified as Pathogenic.
DBGen Ocular Genomics RCV000987727 SCV001816116 pathogenic Retinitis pigmentosa 25 2021-06-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000987727 SCV004195237 likely pathogenic Retinitis pigmentosa 25 2024-01-24 criteria provided, single submitter clinical testing

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