ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14803C>T (p.Arg4935Ter) (rs146733615)

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Total submissions: 3
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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 (http://exac.broadinstitute.org/; 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

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