ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1645C>T (p.Gln549Ter) (rs1555687613)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635456 SCV000756870 uncertain significance Juvenile polyposis syndrome 2017-09-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SMAD4 gene (p.Gln549*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 4 amino acids of the SMAD4 protein. 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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