Submissions for variant NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)

dbSNP: rs886041324

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000385546	SCV000329737	pathogenic	not provided	2020-12-22	criteria provided, single submitter	clinical testing	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; Published in vitro functional studies demonstrate significantly reduced protein expression in patient cells (Long et al., 2020); This variant is associated with the following publications: (PMID: 25525159, 15146475, 16429395, 32581362, 23590310, 30578397, 24591673, 16717148, 32733669, 31727138)
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	RCV003389326	SCV004101412	pathogenic	Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1	2023-11-01	criteria provided, single submitter	clinical testing
Rare Disease Genomics Group, St George's University of London	RCV000488654	SCV000576093	pathogenic	Pulmonary hypertension, primary, 1		no assertion criteria provided	literature only
NIHR Bioresource Rare Diseases, University of Cambridge	RCV001003684	SCV001162127	pathogenic	Pulmonary arterial hypertension		no assertion criteria provided	research
Wendy Chung Laboratory, Columbia University Medical Center	RCV001823883	SCV002073594	not provided	Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension		no assertion provided	literature only