ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1907G>A (p.Arg636His)

gnomAD frequency: 0.00005  dbSNP: rs138017852
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000616006 SCV000711230 likely benign not specified 2017-01-24 criteria provided, single submitter clinical testing p.Arg636His in exon 18 of USH1C: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, the pika, Weddell seal, opossum, Tasmanian devil, and wallaby have a hist idine (His) at this position. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein.

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.