ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) (rs1553273330)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669141 SCV000793857 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-11 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073245 SCV001238781 pathogenic Retinal dystrophy 2018-08-29 criteria provided, single submitter clinical testing
Invitae RCV001389152 SCV001590418 pathogenic not provided 2020-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2693*) 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 (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome and inherited retinal disease (PMID: 26927203, 27160483). ClinVar contains an entry for this variant (Variation ID: 553648). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics,Academic Medical Center RCV001389152 SCV001920103 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001389152 SCV001957410 pathogenic not provided no assertion criteria provided clinical testing

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