ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln)

gnomAD frequency: 0.00007  dbSNP: rs374696855
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000156889 SCV000206610 likely benign not specified 2014-11-03 criteria provided, single submitter clinical testing p.Arg864Gln in exon 26 of USH1C: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, Tibetan antelope, domestic goat, cat, elephant, manatee, and tenrec have a glutamine at this position despite high nearby amino acid conservation. In addi tion, additional computational prediction tools do not suggest a high likelihood of impact to the protein. This variant has also been identified in 0.02% (2/858 6) of European American chromosomes by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs374696855).
Invitae RCV000913381 SCV001058526 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000913381 SCV001764472 likely benign not provided 2018-12-12 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.