ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) (rs542406401)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216840 SCV000271174 likely benign not specified 2015-07-05 criteria provided, single submitter clinical testing p.Ile2189Val in exon 34 of USH2A: This variant is not expected to have clinical significance because the isoleucine (Ile) residue at position 2189 is not conser ved through species, with >10 mammals having a valine (Val) at this position. It has been identified in 15/16504 South Asian chromosomes by the Exome Aggregatio n Consortium (ExAC,; dbSNP rs542406401).
Counsyl RCV000667038 SCV000791427 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-10 criteria provided, single submitter clinical testing

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.