ClinVar Miner

Submissions for variant NM_005901.6(SMAD2):c.1217A>G (p.Tyr406Cys)

dbSNP: rs2144287574
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002226124 SCV002504492 pathogenic not provided 2022-02-24 criteria provided, single submitter clinical testing 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; Reported in an individual with congenital heart disease and neurodevelopmental disability (Blue et al., 2018); This variant is associated with the following publications: (PMID: 29910053)

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