ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) (rs536593247)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411193 SCV000487419 likely pathogenic Usher syndrome, type 2A 2016-08-18 criteria provided, single submitter clinical testing
Counsyl RCV000412623 SCV000490147 likely pathogenic Retinitis pigmentosa 39 2016-08-18 criteria provided, single submitter clinical testing
Invitae RCV000820967 SCV000961706 pathogenic not provided 2019-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro3116Hisfs*13) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs536593247, ExAC 0.08%). This variant has been observed in an individual affected with Usher syndrome (PMID: 24944099). ClinVar contains an entry for this variant (Variation ID: 371686). 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.
Blueprint Genetics RCV001074252 SCV001239825 pathogenic Retinal dystrophy 2019-04-30 criteria provided, single submitter clinical testing

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