ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter) (rs1085307242)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493325 SCV000582343 pathogenic not provided 2015-08-31 criteria provided, single submitter clinical testing The Q181X variant in the BMPR2 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. Q181X 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 Q181X 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, Q181X in the BMPR2 gene is interpreted as a pathogenic variant.
Medical & Molecular Genetics Group,University of Lincoln RCV000488590 SCV000576084 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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