ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer)

gnomAD frequency: 0.00001  dbSNP: rs1064796020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482751 SCV000572384 pathogenic not provided 2016-12-09 criteria provided, single submitter clinical testing The c.7654delG variant in the EYS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.7654delG variant causes a frameshift, changing codon Valine 2552 to a premature Stop codon, denoted p.Val2552Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7654delG variant was not observed in approximately 2300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.7654delG as a pathogenic variant.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376257 SCV001573336 pathogenic Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.7654del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PS1. Based on this evidence we have classified this variant as Pathogenic.
Invitae RCV000482751 SCV001581707 pathogenic not provided 2020-10-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 422819). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val2552*) 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).

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