ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs)

dbSNP: rs1085307253
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002527012 SCV000754704 pathogenic Primary pulmonary hypertension 2017-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys230Asnfs*22) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant has been reported in several individuals affected with pulmonary arterial hypertension (PMID: 10903931). This variant is also known as K230fsX21 in the literature. This variant is not present in population databases (ExAC no frequency).
OMIM RCV000488868 SCV000029570 pathogenic Pulmonary hypertension, primary, 1 2000-09-01 no assertion criteria provided literature only
Rare Disease Genomics Group, St George's University of London RCV000488868 SCV000576100 pathogenic Pulmonary hypertension, primary, 1 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.