ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1616_1631del16insCA (p.Val539Alafs) (rs1568211617)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688646 SCV000816268 uncertain significance Juvenile polyposis syndrome 2018-04-23 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SMAD4 gene (p.Val539Alafs*33). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acids of the SMAD4 protein and extend the protein by an additional 18 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMAD4-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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