ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs) (rs1085307253)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000488868 SCV000754704 pathogenic Primary pulmonary hypertension 2017-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys230Asnfs*22) 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 affected with pulmonary arterial hypertension (PMID: 10903931). This variant is also known as K230fsX21 in the literature. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
Medical & Molecular Genetics Group,University of Lincoln RCV000488868 SCV000576100 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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