ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8681+1G>A (rs876657733)

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 RCV000222048 SCV000271474 pathogenic Usher syndrome; Rare genetic deafness 2015-11-03 criteria provided, single submitter clinical testing The c.8681+1G>A variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome nor in large population studies. This varia nt occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein . The loss of USH2A function is an established disease mechanism in autosomal re cessive Usher syndrome. In summary, this variant meets our criteria to be classi fied as pathogenic for Usher syndrome in an autosomal recessive manner based on the predicted impact of the variant.
Counsyl RCV000673469 SCV000798673 likely pathogenic Retinitis pigmentosa 39 2019-07-12 no assertion criteria provided 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.