ClinVar Miner

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

dbSNP: rs748230358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231122 SCV000940773 pathogenic Primary pulmonary hypertension 2018-07-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. 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). 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). 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.
Rare Disease Genomics Group, St George's University of London RCV000488739 SCV000576171 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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