ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1141dup (p.Arg381fs)

dbSNP: rs1085307303
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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 RCV001388597 SCV001589651 pathogenic Primary pulmonary hypertension 2021-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg381Lysfs*18) 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 been observed in individual(s) with pulmonary arterial hypertension (PMID: 19206171). ClinVar contains an entry for this variant (Variation ID: 425880). Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
Rare Disease Genomics Group, St George's University of London RCV000488632 SCV000576173 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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