ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)

gnomAD frequency: 0.00026  dbSNP: rs141539554
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
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 RCV000606705 SCV000731510 benign not specified 2017-02-16 criteria provided, single submitter clinical testing p.Arg2001Cys in exon 30 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.5% (47/8630) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs141539554). In addition, this amino acid position is not highly conse rved in mammals including three mammals (shrew, star-nosed mole, and elephant) w ith a Cysteine (C) at this position.
Invitae RCV000900596 SCV001044922 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000900596 SCV001788480 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24938718)
Fulgent Genetics, Fulgent Genetics RCV002476370 SCV002803432 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-11-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451451 SCV004181731 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834950 SCV004181732 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905656 SCV004725065 likely benign USH2A-related condition 2020-07-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001834950 SCV002090905 likely benign Usher syndrome type 2A 2019-11-07 no assertion criteria provided 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.