ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1316_1317del (p.Glu439fs)

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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 RCV003596867 SCV004298899 pathogenic Primary pulmonary hypertension 2023-07-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu439Glyfs*8) 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 has not been reported in the literature in individuals affected with BMPR2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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