ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1231_1232delAG (p.Ser411Leufs) (rs730881952)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160956 SCV000211664 pathogenic not provided 2016-05-11 criteria provided, single submitter clinical testing The c.1231_1232delAG variant in the SMAD4 gene has been reported previously in association with juvenile polyposis and features of hereditary hemorrhagic telangiectasia (Schwenter et al., 2012; Ngeow et al., 2013). This deletion causes a frameshift starting with codon Serine 411, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Ser411LeufsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we consider c.1231_1232delAG to be pathogenic, and its presence is consistent with a risk to develop features of juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome. Please note, this variant may be referred to as c.1229_1230delAG using alternate nomenclature.

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