ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.338dup (p.Tyr113Ter)

dbSNP: rs1085307210
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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 RCV003595999 SCV004293046 pathogenic Primary pulmonary hypertension 2023-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 425760). This premature translational stop signal has been observed in individual(s) with pulmonary hypertension (PMID: 23675998). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr113*) 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 RCV000488687 SCV000576036 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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