Submissions for variant NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter)

dbSNP: rs1085307355

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001865505	SCV002247334	pathogenic	Primary pulmonary hypertension	2020-11-23	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 26387786, 31727138). ClinVar contains an entry for this variant (Variation ID: 425947). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp484*) 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).
GeneDx	RCV003231623	SCV003929925	pathogenic	not provided	2022-12-02	criteria provided, single submitter	clinical testing	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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26387786, 32634488, 31727138)
Rare Disease Genomics Group, St George's University of London	RCV000488542	SCV000576244	pathogenic	Pulmonary hypertension, primary, 1		no assertion criteria provided	literature only
Wendy Chung Laboratory, Columbia University Medical Center	RCV001823918	SCV002073640	not provided	Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension		no assertion provided	literature only