ClinVar Miner

Submissions for variant NM_000044.6(AR):c.1736G>C (p.Ser579Thr) (rs1555982879)

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
Invitae RCV000557358 SCV000639443 uncertain significance Androgen resistance syndrome; Bulbo-spinal atrophy X-linked 2017-06-03 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 579 of the AR protein (p.Ser579Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with partial androgen insensitivity syndrome (PMID: 10971094). This variant is also known as S578T in the literature. Experimental studies have shown that this missense change has partial  transactivation activity (PMID: 107971094). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.