Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002234998 | SCV000945765 | pathogenic | Primary pulmonary hypertension | 2018-07-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro739Leufs*22) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BMPR2-related disease. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic. |
| ARUP Laboratories, |
RCV001811492 | SCV001477850 | pathogenic | not provided | 2019-09-06 | criteria provided, single submitter | clinical testing | The BMPR2 c.2216delC; p.Pro739fs variant is reported in the literature in one individual with familial pulmonary arterial hypertension (Zhu 2019). The variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as pathogenic. References: Zhu N et al. Novel risk genes and mechanisms implicated by exome sequencing of 2,572 individuals with pulmonary arterial hypertension. bioRxiv 2019; 550327. |
| Wendy Chung Laboratory, |
RCV001823929 | SCV002073550 | not provided | Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension | no assertion provided | literature only |