ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2521C>T (p.Arg841Cys) (rs137852577)

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
Invitae RCV000640474 SCV000762066 pathogenic Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2017-09-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 841 of the AR protein (p.Arg841Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with partial androgen insensitivity syndrome (PMID: 1430233, 8040309, 20011049, 8824883, 15925895), and segregates with this disease in a large family (PMID: 11788673). This variant is also known as R838C, R839C, and R840C in the literature. ClinVar contains an entry for this variant (Variation ID: 9830). This variant is located in the ligand binding domain of the AR protein. Experimental studies have shown that this missense change disrupts the normal function of androgen receptor and decreases its transcriptional activation activity in cell culture (PMID: 1430233, 8040309, 20011049, 9768671, 16083860). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000010504 SCV000030730 pathogenic Partial androgen insensitivity syndrome 1994-08-01 no assertion criteria provided literature only
OMIM RCV000010529 SCV000030755 pathogenic Androgen resistance syndrome 2002-01-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000010529 SCV000692166 pathogenic Androgen resistance syndrome 2011-01-26 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.