ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10684G>T (p.Glu3562Ter) (rs749702843)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494028 SCV000582786 pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing The E3562X pathogenic variant in the USH2A gene has been reported previously in the compound heterozygous statealong with another USH2A variant in several individuals with a clinical diagnosis of Usher syndrome type II (Malmet al., 2011; Bonnet et al., 2011; Baux et al., 2014; Shzeena et al., 2015). This variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. The E3562X variantwas not observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. Several proteintruncating pathogenic variants downstream of this pathogenic variant have been reported in the Human Gene MutationDatabase in association with Usher syndrome type II (Stenson et al., 2014), supporting the pathogenicity of moreupstream truncating variants. We interpret E3562X as a pathogenic variant.

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