ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)

gnomAD frequency: 0.00001  dbSNP: rs1003869920
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598833 SCV000709890 pathogenic not provided 2018-08-29 criteria provided, single submitter clinical testing The R4526X variant has been reported previously in association with Usher syndrome (Nakanishi et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000598833 SCV001222765 pathogenic not provided 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4526*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with USH2A-related conditions (PMID: 21593743, 28157192). ClinVar contains an entry for this variant (Variation ID: 438014). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074297 SCV001239870 pathogenic Retinal dystrophy 2019-06-18 criteria provided, single submitter clinical testing
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV000504721 SCV004030333 pathogenic Retinitis pigmentosa 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
Genome-Nilou Lab RCV000670712 SCV004183153 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670712 SCV004200738 pathogenic Retinitis pigmentosa 39 2024-02-29 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000670712 SCV005374598 pathogenic Retinitis pigmentosa 39 2024-10-15 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504721 SCV000598789 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Counsyl RCV000670712 SCV000795603 pathogenic Retinitis pigmentosa 39 2017-11-10 no assertion criteria provided clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000504721 SCV000926722 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Natera, Inc. RCV001829437 SCV002088252 pathogenic Usher syndrome type 2A 2021-07-08 no assertion criteria provided clinical testing

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