ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)

gnomAD frequency: 0.00064  dbSNP: rs143994166
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664630 SCV000788626 pathogenic Retinitis pigmentosa 25 2018-01-03 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000225560 SCV001240969 pathogenic Retinal dystrophy 2018-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001205723 SCV001376993 pathogenic not provided 2024-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys385*) 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 (rs143994166, gnomAD 0.6%), and has an allele count higher than expected for a pathogenic variant. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 27208204, 28704921). ClinVar contains an entry for this variant (Variation ID: 236447). For these reasons, this variant has been classified as Pathogenic.
Genetics and Molecular Pathology, SA Pathology RCV000664630 SCV002761769 likely pathogenic Retinitis pigmentosa 25 2021-02-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000664630 SCV004192941 pathogenic Retinitis pigmentosa 25 2024-03-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000664630 SCV004235288 pathogenic Retinitis pigmentosa 25 2023-06-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987459 SCV004803255 pathogenic Retinitis pigmentosa 2024-01-12 criteria provided, single submitter clinical testing Variant summary: EYS c.1155T>A (p.Cys385X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 0.00068 in 250020 control chromosomes. c.1155T>A has been reported in the literature in multiple individuals affected with Retinitis Pigmentosa (e.g., McGuigan_2017). The following publication has been ascertained in the context of this evaluation (PMID: 28704921). ClinVar contains an entry for this variant (Variation ID: 236447). Based on the evidence outlined above, the variant was classified as pathogenic.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225560 SCV000282553 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Reproductive Health Research and Development, BGI Genomics RCV000664630 SCV001142363 pathogenic Retinitis pigmentosa 25 2020-01-06 no assertion criteria provided curation NM_001142800.1:c.1155T>A in the EYS gene has an allele frequency of 0.006 in European (Finnish) subpopulation in the gnomAD database. The EYS c.1155T>A (p.Cys385*) variant results in a premature termination codon, predicted to cause a truncated or absent EYS protein due to nonsense mediated decay. This variant has been observed in a patient with retinitis pigmentosa, in a compound heterozygous state with c.8648_8655delCATGCAGA (p.Thr2883Lysfs*4) (PMID: 28704921). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PVS1; PM3; PP4.
Natera, Inc. RCV000664630 SCV002076680 pathogenic Retinitis pigmentosa 25 2021-01-28 no assertion criteria provided clinical testing

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