ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) (rs374694591)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000196055 SCV000610429 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000196055 SCV000249642 pathogenic not provided 2014-12-02 criteria provided, single submitter clinical testing p.Arg266Thr (AGA>ACA): c.797 G>C in exon 6 of the BMPR2 gene (NM_001204.6). The R266T mutation in the BMPR2 gene has been reported in one individual diagnosed with PAH and was absent from 300 control chromosomes; however, no additional clinical information or segregation studies were provided (Machado et al., 2006). R266T results in a semi-conservative amino acid substitution as these residues share similar properties, but differs in size, charge, or other properties which may impact secondary structure. This substitution occurs at a position that is conserved across species. Mutations in nearby residues (D264N, M273R) have been reported in association with PAH, further supporting the functional importance of this region of the protein. Furthermore, the R266T variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. In summary, R266T 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 RCV000488817 SCV000576111 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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