ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) (rs146733615)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000824777 SCV000204043 pathogenic Rare genetic deafness 2016-09-15 criteria provided, single submitter clinical testing The p.Arg4935X variant in USH2A has been previously reported in more than nine i ndividuals with either Usher syndrome type II or retinitis pigmentosa (Baux 2007 , Ebermann 2009, Sandberg 2008, McGee 2010, Besnard 2013, LMM data). This varia nt has been also identified in 2/66718 European chromosomes by the Exome Aggrega tion Consortium (; dpSNP rs146733615). Although t his variant has been seen in the general population, its frequency is low enough to be consistent with a carrier frequency of a recessive disorder. This nonsens e variant leads to a premature termination codon at position 4935, which is pred icted to lead to a truncated or absent protein. In summary, this variant meets c riteria to be classified as pathogenic for autosomal recessive Usher syndrome.
Counsyl RCV000410556 SCV000487450 pathogenic Usher syndrome, type 2A 2016-08-18 criteria provided, single submitter clinical testing
Counsyl RCV000411616 SCV000487451 pathogenic Retinitis pigmentosa 39 2016-08-18 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000410556 SCV001156375 pathogenic Usher syndrome, type 2A 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV001054211 SCV001218514 pathogenic not provided 2020-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4935*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs146733615, ExAC 0.003%). This variant has been observed in individuals affected with Usher syndrome (PMID: 17405132, 29142287). ClinVar contains an entry for this variant (Variation ID: 177760). 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.
Blueprint Genetics RCV001073844 SCV001239408 pathogenic Retinal dystrophy 2018-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000410556 SCV001461999 pathogenic Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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