ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) (rs863223426)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198552 SCV000249649 pathogenic not provided 2014-09-03 criteria provided, single submitter clinical testing p.Asn126Ser (AAC>AGC): c.377 A>G in exon 3 of the BMPR2 gene (NM_001204.6). The N126S mutation in the BMPR2 gene has been reported previously in three unrelated individuals with a diagnosis of PAH (Machado R et al., 2009; Girerd B et al., 2010). This substitution occurs at a position that is completely conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Mutations in nearby residues (C118Y, C118W, C123S, C123R, N124D) have been reported in association with PAH, further supporting the functional importance of this region of the protein. Furthermore, the N126S mutation 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, N126S in the BMPR2 gene is interpreted as a disease-causing mutation. This variant was found in PAH-ARRHYTHMIA
Medical & Molecular Genetics Group,University of Lincoln RCV000488669 SCV000576053 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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