ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8740C>T (p.Arg2914Ter) (rs766590491)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666615 SCV000790935 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213731 SCV000271475 pathogenic Rare genetic deafness 2015-04-24 criteria provided, single submitter clinical testing The p.Arg2914X variant in USH2A has been previously reported in 4 individuals wi th Usher syndrome (Baux 2014, McGee 2010) and 1 individual with retinitis pigmen tosa (RP) (Zhao 2015), however hearing loss was not evaluated in the latter. At least 4 of these individuals were compound heterozygous for a second pathogenic variant in USH2A. This variant has been identified in 1/66678 European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org), though this frequency is low enough to be consistent with a recessive carrier fr equency. This nonsense variant leads to a premature termination codon at positio n 2914, which is predicted to lead to a truncated or absent protein. Loss of fun ction of the USH2A gene is an established disease mechanism in Usher syndrome. I n summary, the p.Arg2914X variant in USH2A meets our criteria to be classified a s pathogenic for autosomal recessive Usher syndrome based upon the predicted imp act to the protein and the previously reported individuals with Usher syndrome ( www.partners.org/personalizedmedicine/lmm).

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