Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200009 | SCV000249641 | pathogenic | not provided | 2014-11-21 | criteria provided, single submitter | clinical testing | p.Tyr282Ter (TAT>TAG): c.846 T>G in exon 6 of the BMPR2 gene (NM_001204.6). The Y282X mutation in the BMPR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Y282X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Many other nonsense mutations in the BMPR2 gene have been reported in association with PAH. In summary, Y282X in the BMPR2 gene is interpreted as a disease-causing mutation. This variant was found in PAH-ARRHYTHMIA |
Wendy Chung Laboratory, |
RCV001823875 | SCV002073602 | not provided | Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension | no assertion provided | literature only |