ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) (rs886039449)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255405 SCV000321995 pathogenic not provided 2016-08-15 criteria provided, single submitter clinical testing The C768X pathogenic variant in the USH2A gene has been reported previously in association with Usher syndrome (Cremers et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The C768X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret C768X as a pathogenic variant.
Blueprint Genetics RCV001074717 SCV001240310 likely pathogenic Retinal dystrophy 2019-04-16 criteria provided, single submitter clinical testing
Invitae RCV000255405 SCV001379478 pathogenic not provided 2019-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys768*) 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 individuals affected with Usher syndrome (PMID: 16963483, 28559085). ClinVar contains an entry for this variant (Variation ID: 265286). 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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