ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) (rs73090721)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041954 SCV000065650 pathogenic Rare genetic deafness 2012-03-12 criteria provided, single submitter clinical testing The Cys3153X variant in USH2A has been reported in one individual with Usher syn drome who was compound heterozygous with a second pathogenic USH2A variant (Le Q uesne Stabej 2012). This nonsense variant leads to a premature termination codon at position 3153, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http ://
Counsyl RCV000674717 SCV000800106 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-05-22 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075710 SCV001241338 pathogenic Retinal dystrophy 2019-04-24 criteria provided, single submitter clinical testing

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