ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)

dbSNP: rs1060502576
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230088 SCV000550156 pathogenic Primary pulmonary hypertension 2016-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 11536076, 12417513). This particular variant has been reported in the literature in individuals with pulmonary arterial hypertension (PMID: 17515463, 26387786). This sequence change creates a premature translational stop signal at codon 466 (p.Trp466*) of the BMPR2 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV000763064 SCV000893567 pathogenic Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2018-10-31 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000468461 SCV000576231 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003720 SCV001162163 pathogenic Pulmonary arterial hypertension no assertion criteria provided research

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.