ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) (rs869025366)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208112 SCV000263791 pathogenic Primary pulmonary hypertension 2015-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000489453 SCV000577634 pathogenic not provided 2015-08-31 criteria provided, single submitter clinical testing The R147X variant in the BMPR2 gene has been reported in patients with familial and sporadic PAH (Machado et al., 2001; Morisaki et al., 2004; Machado et al., 2006; Elliott et al., 2006; Wang et al., 2010; Liu et al., 2012; Momose et al., 2015). Machado et al. (2001) reported that this variant co-segregated with disease in three family members across two generations. R147X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the BMPR2 gene have been reported in HGMD in association with PAH (Stenson et al., 2014). Furthermore, the R147X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, R147X in the BMPR2 gene is interpreted as a pathogenic variant.
Medical & Molecular Genetics Group,University of Lincoln RCV000208112 SCV000576071 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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