ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11954G>A (p.Trp3985Ter) (rs397517976)

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 RCV000041710 SCV000065406 pathogenic Rare genetic deafness 2011-06-21 criteria provided, single submitter clinical testing The Trp3985X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. The Trp3985X variant leads to a premature sto p codon at position 3985, which is predicted to lead to a truncated or absent pr otein. In summary, this variant meets our criteria to be classified as pathogeni c.
Counsyl RCV000669396 SCV000794144 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-15 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.