ClinVar Miner

Submissions for variant NM_000240.4(MAOA):c.133C>T (p.Arg45Trp)

dbSNP: rs796065312
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
Sydney Children's Hospital, SCHN RCV000190424 SCV000191919 pathogenic Brunner syndrome 2014-11-10 criteria provided, single submitter clinical testing Phenotype consistent with described MAOA deficiency. Functional studies (bioamine levels in blood and urine) consistent with MAOA deficiency. Predicted Pathogenic PROVEAN, SIFT, Mutation Taster. Not listed Exac Database.
GeneDx RCV002293426 SCV002586811 likely pathogenic not provided 2022-04-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25807999, 11700166)
OMIM RCV000190424 SCV000747034 pathogenic Brunner syndrome 2015-03-23 no assertion criteria provided literature only

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.