ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5836C>T (p.Arg1946Ter) (rs751130485)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255960 SCV000321996 pathogenic not provided 2019-07-01 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; This variant is associated with the following publications: (PMID: 25525159, 22135276, 31047384, 20507924, 24944099, 30358468, 28559085, 31054281)
Invitae RCV000255960 SCV001231048 pathogenic not provided 2020-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1946*) 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 individuals affected with Usher syndrome (PMID: 28559085). ClinVar contains an entry for this variant (Variation ID: 265287). 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. RCV001276244 SCV001462251 pathogenic Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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