ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)

gnomAD frequency: 0.00001  dbSNP: rs1177052380
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724863 SCV001950269 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Trp58Ter variant in EYS was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3-P. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Labcorp Genetics (formerly Invitae), Labcorp RCV001882787 SCV002176677 pathogenic not provided 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp58*) 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 (no rsID available, gnomAD 0.006%). 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: 1297159). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470880 SCV004192931 likely pathogenic Retinitis pigmentosa 25 2023-09-12 criteria provided, single submitter clinical testing
3billion RCV003470880 SCV005905428 pathogenic Retinitis pigmentosa 25 2023-09-06 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV001297159). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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