ClinVar Miner

Submissions for variant NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155866 SCV003845132 likely pathogenic Usher syndrome 2023-02-22 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 16 in the USH2A gene. A presumed nomenclature of c.(3157+1_3158-1)_(3316+1_3317-1)del has been designated for the purposes of this classification. Although exact breakpoints of this CNV are not known, it is expected to result in a large in-frame deletion in the USH2A gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes. To our knowledge, no occurrence of c.(3157+1_3158-1)_(3316+1_3317-1)del in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as 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.