ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro)

dbSNP: rs1085307207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755726 SCV001985399 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing Reported previously in an adult male with history of complete atrial ventricular canal defect type C repair in childhood and pulmonary arterial hypertension (Roberts et al., 2004); Published in vitro studies indicate that S107P may be detrimental to ligand binding (Yeh et al., 2012); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22894880, 26387786, 16429395, 16361068, 30957726, 15358693)
Rare Disease Genomics Group, St George's University of London RCV000488716 SCV000576033 pathogenic Pulmonary arterial hypertension associated with congenital heart disease no assertion criteria provided literature only

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