ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.431-6T>A

dbSNP: rs1589768166
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002234757 SCV000944395 uncertain significance Juvenile polyposis syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the BMPR1A gene. It does not directly change the encoded amino acid sequence of the BMPR1A protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to segregate with juvenile polyposis syndrome (JPS) in a family (Invitae). This variant is not present in population databases (ExAC no frequency).

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.