ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3558del (p.Cys1186fs) (rs397518014)

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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 RCV000824788 SCV000065526 pathogenic Rare genetic deafness 2011-09-17 criteria provided, single submitter clinical testing
Counsyl RCV000041830 SCV000487464 likely pathogenic Usher syndrome, type 2A 2015-12-16 criteria provided, single submitter clinical testing
Counsyl RCV000411413 SCV000487465 likely pathogenic Retinitis pigmentosa 39 2015-12-16 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073532 SCV001239079 likely pathogenic Retinal dystrophy 2019-05-11 criteria provided, single submitter clinical testing
Invitae RCV001213213 SCV001384834 pathogenic not provided 2019-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1186Trpfs*51) in the USH2A gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in several individuals affected with Usher syndrome (PMID: 27318125, 20613545). ClinVar contains an entry for this variant (Variation ID: 48504). 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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