ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) (rs143994166)

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Total submissions: 5
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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
Invitae RCV001205723 SCV001376993 pathogenic not provided 2019-11-18 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. This variant is present in population databases (rs143994166, ExAC 0.9%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in several individuals, with retinitis pigmentosa (PMID: 27208204, 28704921). ClinVar contains an entry for this variant (Variation ID: 236447). Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). For these reasons, this variant has been 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.

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