ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.419-1G>T

dbSNP: rs2106002050
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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 RCV002542751 SCV002953205 likely pathogenic Primary pulmonary hypertension 2022-12-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1339375). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with pulmonary arterial hypertension (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 3 of the BMPR2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395).
Wendy Chung Laboratory, Columbia University Medical Center RCV001823971 SCV002073585 not provided Pulmonary arterial hypertension; Drug- or toxin-induced pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease no assertion provided literature only

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