ClinVar Miner

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

dbSNP: rs1085307253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002527012 SCV000754704 pathogenic Primary pulmonary hypertension 2017-12-03 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. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). 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. This variant is not present in population databases (ExAC no frequency).
OMIM RCV000488868 SCV000029570 pathogenic Pulmonary hypertension, primary, 1 2000-09-01 no assertion criteria provided literature only
Rare Disease Genomics Group, St George's University of London RCV000488868 SCV000576100 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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