ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255405 SCV000321995 pathogenic not provided 2020-11-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 16963483, 28559085)
Blueprint Genetics RCV001074717 SCV001240310 likely pathogenic Retinal dystrophy 2019-04-16 criteria provided, single submitter clinical testing
Invitae RCV000255405 SCV001379478 pathogenic not provided 2020-08-08 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.
Natera, Inc. RCV001271235 SCV001452247 pathogenic Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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