ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.968-5A>G (rs1060502584)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459115 SCV000550172 uncertain significance Primary pulmonary hypertension 1 2016-04-17 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the BMPR2 mRNA. It does not directly change the encoded amino acid sequence of the BMPR2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with pulmonary arterial hypertension. Currently there is insufficient evidence to conclude whether this variant segregates with disease or not (PMID: 19555857). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. In the absence of confirmed functional or segregation evidence, at this time It has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV001331819 SCV001523946 uncertain significance Pulmonary venoocclusive disease 1, autosomal dominant 2019-11-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Medical & Molecular Genetics Group,University of Lincoln RCV000459115 SCV000576140 pathogenic Primary pulmonary hypertension 1 no assertion criteria provided literature only

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