ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter)

dbSNP: rs1085307242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493325 SCV000582343 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing Identified in patients with PAH referred for testing at GeneDx and in published literature (Machado et al., 2015); Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26387786)
Rare Disease Genomics Group, St George's University of London RCV000488590 SCV000576084 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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