ClinVar Miner

Submissions for variant NM_000044.6(AR):c.1531A>T (p.Arg511Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003427941 SCV004117892 pathogenic AR-related disorder 2022-12-01 criteria provided, single submitter clinical testing The AR c.1531A>T variant is predicted to result in premature protein termination (p.Arg511*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in AR are expected to be pathogenic. This variant is interpreted as pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003883995 SCV004698044 pathogenic Androgen resistance syndrome 2024-03-05 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.