ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) (rs1057519193)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416074 SCV000493540 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
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
Invitae RCV000416074 SCV001586257 pathogenic not provided 2020-09-28 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. This variant is not present in population databases (ExAC no frequency). This variant 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). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.

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