ClinVar Miner

Submissions for variant NM_000044.6(AR):c.2659A>G (p.Met887Val) (rs755226547)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000399756 SCV000329081 pathogenic not provided 2015-05-08 criteria provided, single submitter clinical testing The M887V pathogenic variant in the AR gene was reported previously in three unrelated men with defective spermatogenesis resulting in severe oligospermia, and functional studies suggest it impairs transactivation(Ghadessy et al., 1999, reported as M886V using alternate nomenclature). M887V was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common variant in thesepopulations. The M887V variant is a conservative amino acid substitution and occurs at a position in the ligand binding domain thatis conserved across species. In silico analyses predict this variant is probably damaging to the protein structure/function. Given the available evidence, we interpret M887V to be pathogenic.
Ambry Genetics RCV000623126 SCV000741817 uncertain significance Inborn genetic diseases 2016-09-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000399756 SCV001015495 benign not provided 2018-11-20 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.