ClinVar Miner

Submissions for variant NM_206933.2(USH2A):c.1644+10004_1972-12164del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000591519 SCV000709744 likely pathogenic Usher syndrome 2018-03-07 criteria provided, single submitter clinical testing The deletion encompassing exons 10 and 11 of USH2A has been reported in 3 individuals with Usher syndrome, all of whom were compound heterozygous (Baux 2014, LMM data). This variant has also been reported in 1/32850 European chromosomes by the Exome Aggregation Consortium (ExAC,, which is consistent with a recessive carrier frequency. The deletion of exons 10-11 is predicted to result in an in-frame deletion that would truncate the protein by 108 amino acids. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic.

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