ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2103G>T (p.Leu701Phe) (rs1555995848)

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 RCV000557959 SCV000629588 likely pathogenic Androgen resistance syndrome 2017-01-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 701 of the AR protein (p.Leu701Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with complete androgen insensitivity syndrome (PMID: 23774508). Experimental studies have shown that this missense change severely impairs ligand binding and transcriptional activity in vitro (PMID: 23774508, 20007693). In summary, this variant is a rare missense change that has been observed in an affected family and has been shown to impair protein function. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.