ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) (rs886041324)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000385546 SCV000329737 pathogenic not provided 2016-06-07 criteria provided, single submitter clinical testing The R213X variant in the BMP2 gene has been reported previously in association with both familial and sporadic cases of PAH (Morisaki et al., 2004; Machado et al., 2006; Elliott et al., 2006; Raamsteeboers et al., 2014). R213X was first reported in two unrelated Japanese patients with sporadic PAH, and was absent from 190 control chromosomes (Morisaki et al., 2004). Raamsteeboers et al. (2014) reported an 80 year old female patient with the R213X variant and diagnoses of both PAH and idiopathic pulmonary fibrosis (IPF); authors suspect a causal relationship between the two disorders with R213X. This variant 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 R213X pathogenic 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. Of note, Drake et al. (2013) showed that ataluren may hold potential for ribosomal readthrough of PAH nonsense variants, including R213X, by demonstrating restored BMP signaling in vitro. In summary, R213X in the BMPR2 gene is interpreted as a pathogenic variant.
Medical & Molecular Genetics Group,University of Lincoln RCV000488654 SCV000576093 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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