ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) (rs137852748)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000009350 SCV000939331 pathogenic Primary pulmonary hypertension 2018-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg873*) 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 observed in several individuals affected with pulmonary arterial hypertension, including an individual in whom this variant has been described to be de novo (PMID: 10903931, 18356561, 21737554, 21801371, 25429696). ClinVar contains an entry for this variant (Variation ID: 8805). Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009350 SCV000029568 pathogenic Primary pulmonary hypertension 2000-09-01 no assertion criteria provided literature only
Medical & Molecular Genetics Group,University of Lincoln RCV000009350 SCV000576301 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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