ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1348C>T (p.Gln450Ter)

dbSNP: rs868369541
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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 RCV002527015 SCV003524839 pathogenic Primary pulmonary hypertension 2022-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln450*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with pulmonary arterial hypertension (PMID: 15591269). ClinVar contains an entry for this variant (Variation ID: 425927). For these reasons, this variant has been classified as Pathogenic.
Rare Disease Genomics Group, St George's University of London RCV000488691 SCV000576222 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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