ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) (rs1085307154)

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
Invitae RCV000488825 SCV000629980 pathogenic Primary pulmonary hypertension 2017-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 16 (p.Trp16*) of the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic. This particular variant has been reported in the literature in individuals with pulmonary arterial hypertension (PMID: 18356561, 26387786, 21801371). For these reasons, this variant has been classified as Pathogenic.
Medical & Molecular Genetics Group,University of Lincoln RCV000488825 SCV000575957 pathogenic Primary pulmonary hypertension 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.