ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
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, http://exac.broadinstitute.org), 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.