ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2732C>A (p.Thr911Asn)

dbSNP: rs397518006
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, Mass General Brigham Personalized Medicine RCV000041816 SCV000065512 likely benign not specified 2011-03-14 criteria provided, single submitter clinical testing Thr911Asn in exon 13 of USH2A: This variant has been reported in 1 individual wi th retinitis pigmentosa (Seyedahmadi 2004, McGee 2010). However, this variant is not expected to have clinical significance because the Thr911 residue is not we ll conserved, even in mammals, and the Thr911Asn variant was identified in an in dividual who has an alternate etiology for Usher syndrome.

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.