ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)

gnomAD frequency: 0.00001  dbSNP: rs1057519193
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416074 SCV000493540 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing USH2A: PVS1, PM2
Counsyl RCV000671186 SCV000796138 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-07 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074930 SCV001240536 pathogenic Retinal dystrophy 2017-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000416074 SCV001586257 pathogenic not provided 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp3702*) 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 individual(s) with Usher syndrome or retinitis pigmentosa (PMID: 23591405, 26667666). ClinVar contains an entry for this variant (Variation ID: 374674). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000416074 SCV001905661 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449039 SCV004182139 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449038 SCV004182140 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003449039 SCV004208329 pathogenic Retinitis pigmentosa 39 2023-08-16 criteria provided, single submitter clinical testing

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