ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1426_1450del (p.Leu476fs)

dbSNP: rs863223422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003761813 SCV004406810 pathogenic Primary pulmonary hypertension 2022-11-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 212813). This premature translational stop signal has been observed in individual(s) with pulmonary arterial hypertension (PMID: 26387786). This sequence change creates a premature translational stop signal (p.Leu476Glyfs*22) 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).
Rare Disease Genomics Group, St George's University of London RCV000488818 SCV000576240 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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