ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)

dbSNP: rs863223419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200009 SCV000249641 pathogenic not provided 2014-11-21 criteria provided, single submitter clinical testing p.Tyr282Ter (TAT>TAG): c.846 T>G in exon 6 of the BMPR2 gene (NM_001204.6). The Y282X mutation in the BMPR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Y282X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Many other nonsense mutations in the BMPR2 gene have been reported in association with PAH. In summary, Y282X in the BMPR2 gene is interpreted as a disease-causing mutation. This variant was found in PAH-ARRHYTHMIA
Wendy Chung Laboratory, Columbia University Medical Center RCV001823875 SCV002073602 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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