ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) (rs397518011)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000824791 SCV000065521 pathogenic Rare genetic deafness 2012-03-13 criteria provided, single submitter clinical testing The Tyr1103X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. This nonsense variant leads to a premature te rmination codon at position 1103, which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets our criteria to be classified as p athogenic (
Counsyl RCV000669871 SCV000794664 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-10 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074200 SCV001239771 pathogenic Retinal dystrophy 2019-03-14 criteria provided, single submitter clinical testing
Invitae RCV001386859 SCV001587241 pathogenic not provided 2020-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1103*) 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 retinitis pigmentosa or Usher syndrome (PMID: 25472526, 27460420). ClinVar contains an entry for this variant (Variation ID: 48499). 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.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000041825 SCV000902402 pathogenic Usher syndrome, type 2A 2019-02-26 no assertion criteria provided case-control

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