ClinVar Miner

Submissions for variant NM_000479.5(AMH):c.571C>T (p.Arg191Ter)

dbSNP: rs104894666
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004799735 SCV005423252 pathogenic Persistent Mullerian duct syndrome 2024-10-15 criteria provided, single submitter clinical testing Variant summary: AMH c.571C>T (p.Arg191X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 5.8e-06 in 1539450 control chromosomes. c.571C>T has been reported in the literature in individuals affected with Persistent Mullerian duct syndrome (Imbeaud_1994). These report(s) do not provide unequivocal conclusions about association of the variant with Persistent Mullerian duct syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 8162013). ClinVar contains an entry for this variant (Variation ID: 8624). Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000009156 SCV000029373 pathogenic Persistent mullerian duct syndrome, type I 1992-12-01 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.