ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12050A>G (p.His4017Arg)

dbSNP: rs1237304700
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
Ambry Genetics RCV002921081 SCV003660552 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.12050A>G (p.H4017R) alteration is located in exon 61 (coding exon 60) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 12050, causing the histidine (H) at amino acid position 4017 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.