ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8380G>A (p.Val2794Ile)

gnomAD frequency: 0.00001  dbSNP: rs373984123
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810636 SCV001474574 uncertain significance not provided 2019-10-21 criteria provided, single submitter clinical testing The USH2A c.8380G>A; p.Val2794Ile variant (rs373984123), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Exome Sequencing Project, indicating it is not a common polymorphism. The valine at codon 2794 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the c.8380G>A variant is uncertain at this time.

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.