ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter)

dbSNP: rs1085307179
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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 RCV001376584 SCV001230203 pathogenic Primary pulmonary hypertension 2019-04-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant has been observed in individuals affected with pulmonary arterial hypertension (PMID: 18503968 , 19555857). ClinVar contains an entry for this variant (Variation ID: 425721). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr67*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product.
Rare Disease Genomics Group, St George's University of London RCV000488520 SCV000575995 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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