ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.254G>A (p.Trp85Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003596854 SCV004295297 pathogenic Primary pulmonary hypertension 2023-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp85*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with pulmonary arterial hypertension (PMID: 16429395, 25612240). For these reasons, this variant has been classified as Pathogenic.

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