ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) (rs73090721)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041954 SCV000065650 pathogenic Rare genetic deafness 2012-03-12 criteria provided, single submitter clinical testing The Cys3153X variant in USH2A has been reported in one individual with Usher syn drome who was compound heterozygous with a second pathogenic USH2A variant (Le Q uesne Stabej 2012). This nonsense variant leads to a premature termination codon at position 3153, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http ://
Counsyl RCV000674717 SCV000800106 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-05-22 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075710 SCV001241338 pathogenic Retinal dystrophy 2019-04-24 criteria provided, single submitter clinical testing
Invitae RCV001388971 SCV001590165 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys3153*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Usher syndrome and retinitis pigmentosa (PMID: 22135276, 31370859, 28559085). ClinVar contains an entry for this variant (Variation ID: 48628). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001388971 SCV001778423 likely pathogenic not provided 2019-08-29 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 at a significant frequency in large population cohorts (Lek et al., 2016) This variant is associated with the following publications: (PMID: 31266775, 31370859, 26164827, 28559085, 28894305, 22135276)
Natera, Inc. RCV001273702 SCV001457071 pathogenic Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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