ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.871_872dup (p.Leu291fs)

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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 RCV003762561 SCV004425157 pathogenic Primary pulmonary hypertension 2023-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu291Phefs*2) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BMPR2-related conditions.

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