ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.621+1G>T

dbSNP: rs1553508321
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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 RCV002231037 SCV000629981 likely pathogenic Primary pulmonary hypertension 2017-05-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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. This variant has not been reported in the literature in individuals with a BMPR2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 5 of the BMPR2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
GeneDx RCV004722877 SCV005332342 pathogenic not provided 2023-05-26 criteria provided, single submitter clinical testing Reported in a patient with idiopathic pulmonary arterial hypertension in the published literature (Jang et al., 2020); 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: 32966279)

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