ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)

gnomAD frequency: 0.00003  dbSNP: rs769233119
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074039 SCV001239607 uncertain significance Retinal dystrophy 2018-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554695 SCV003621254 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.9998A>G (p.D3333G) alteration is located in exon 51 (coding exon 50) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 9998, causing the aspartic acid (D) at amino acid position 3333 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455342 SCV004182611 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455341 SCV004182612 uncertain significance Usher syndrome type 2A 2023-11-04 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.