ClinVar Miner

Submissions for variant NM_005901.6(SMAD2):c.619C>G (p.Pro207Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002474191 SCV002770294 uncertain significance not provided 2023-09-08 criteria provided, single submitter clinical testing Reported in an individual with history of hypertension and spontaneous coronary artery dissections (Verstraeten et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32897753)

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