ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3959C>A (p.Pro1320His) (rs771924569)

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
GeneDx RCV000479096 SCV000565647 likely pathogenic not provided 2013-03-15 criteria provided, single submitter clinical testing The P1320H missense change in the USH2A gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The P1320H amino acid substitution is non-conservative with a neutral and non-polar residue (Pro) being replaced by a positively charged and polar residue (His). Furthermore, the loss of a Proline residue with its unique structure may affect the structure of the protein. The residue at which this substitution occurs is conserved within the fibronectin type III domain of the usherin protein. The P1320H variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Therefore, the P1320H missense change is a strong candidate for a pathogenic variant, although the possibility that it is a benign polymorphism cannot be excluded.

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.