ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) (rs1060502576)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468461 SCV000550156 pathogenic Primary pulmonary hypertension 2016-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 466 (p.Trp466*) of the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 11536076, 12417513). This particular variant has been reported in the literature in individuals with pulmonary arterial hypertension (PMID: 17515463, 26387786). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763064 SCV000893567 pathogenic Primary pulmonary hypertension; Pulmonary veno-occlusive disease 2018-10-31 criteria provided, single submitter clinical testing
Medical & Molecular Genetics Group,University of Lincoln RCV000468461 SCV000576231 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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