ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) (rs137852741)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000009341 SCV000754706 pathogenic Primary pulmonary hypertension 2018-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg899*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals and families affected with pulmonary hypertension, being found to be de novo in one case (PMID: 10973254, 11115378, 15146475, 19555857, 21737554, 21801371, 23592887). ClinVar contains an entry for this variant (Variation ID: 8796). Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763065 SCV000893568 pathogenic Primary pulmonary hypertension; Pulmonary venoocclusive disease 1, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000009341 SCV000029559 pathogenic Primary pulmonary hypertension 2000-09-01 no assertion criteria provided literature only
Medical & Molecular Genetics Group,University of Lincoln RCV000009341 SCV000576306 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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