ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) (rs1060502583)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473484 SCV000550171 uncertain significance Primary pulmonary hypertension 1 2016-12-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 503 of the BMPR2 protein (p.Glu503Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals affected with pulmonary arterial hypertension (PMID: 15358693, Invitae). Experimental studies have shown that this missense change does not affect BMPR2 localization or signaling, but the clinical significance of these observations is uncertain (PMID: 18321866, 25688877). In summary, this variant is a rare missense change that is not shown to affect protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Wendy Chung Laboratory,Columbia University Medical Center RCV000488481 SCV000784728 uncertain significance Pulmonary arterial hypertension associated with congenital heart disease 2018-06-27 criteria provided, single submitter case-control
Medical & Molecular Genetics Group,University of Lincoln RCV000488481 SCV000576255 pathogenic Pulmonary arterial hypertension associated with congenital heart disease no assertion criteria provided literature only

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