ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2202del (p.Pro735fs)

dbSNP: rs1688559190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048830 SCV001212854 pathogenic Primary pulmonary hypertension 2019-04-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro735Leufs*26) 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 not been reported in the literature in individuals with BMPR2-related conditions. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
Wendy Chung Laboratory, Columbia University Medical Center RCV001823934 SCV002073658 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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