ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1129-3C>G (rs748230358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000488739 SCV000940773 pathogenic Primary pulmonary hypertension 2018-07-09 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the BMPR2 gene. It does not directly change the encoded amino acid sequence of the BMPR2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with pulmonary hypertension (PMID: 11115378, 16717148, 19206171, 21737554). ClinVar contains an entry for this variant (Variation ID: 425878). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this intronic change leads to the out-of-frame skipping of exon 9 (PMID: 19206171). For these reasons, this variant has been classified as Pathogenic.
Medical & Molecular Genetics Group,University of Lincoln RCV000488739 SCV000576171 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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