ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) (rs1288381992)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670590 SCV000795460 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV001062508 SCV001227314 pathogenic not provided 2019-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3326*) 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 an individual affected with a USH2A-related condition (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438038). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505042 SCV000598848 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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