Submissions for variant NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)

dbSNP: rs137852748

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001376610	SCV000939331	pathogenic	Primary pulmonary hypertension	2023-07-22	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 8805). This premature translational stop signal has been observed in individual(s) with pulmonary arterial hypertension (PMID: 10903931, 18356561, 21737554, 21801371, 25429696). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg873*) 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).
Revvity Omics, Revvity	RCV003137505	SCV003825995	likely pathogenic	not provided	2022-01-31	criteria provided, single submitter	clinical testing
OMIM	RCV000009350	SCV000029568	pathogenic	Pulmonary hypertension, primary, 1	2000-09-01	no assertion criteria provided	literature only
Rare Disease Genomics Group, St George's University of London	RCV000009350	SCV000576301	pathogenic	Pulmonary hypertension, primary, 1		no assertion criteria provided	literature only
NIHR Bioresource Rare Diseases, University of Cambridge	RCV001003745	SCV001162188	pathogenic	Pulmonary arterial hypertension		no assertion criteria provided	research
Wendy Chung Laboratory, Columbia University Medical Center	RCV001823868	SCV002073557	not provided	Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension		no assertion provided	literature only