ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1128+1G>C

dbSNP: rs863223420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000273960 SCV000330788 pathogenic not provided 2024-03-07 criteria provided, single submitter clinical testing Has been reported in an individual with pulmonary arterial hypertension (PAH) (PMID: 31727138); Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31727138)
Labcorp Genetics (formerly Invitae), Labcorp RCV002229735 SCV000943337 pathogenic Primary pulmonary hypertension 2018-08-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the BMPR2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individuals affected with pulmonary hypertension (PMID: 12821254, 16429395, 29650961, Invitae). ClinVar contains an entry for this variant (Variation ID: 280837). This variant is not present in population databases (ExAC no frequency).
Wendy Chung Laboratory, Columbia University Medical Center RCV001823884 SCV002073625 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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