ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.668-6C>G (rs748992694)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584134 SCV000691428 likely benign Hereditary cancer-predisposing syndrome 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000635413 SCV000756826 uncertain significance Juvenile polyposis syndrome 2017-12-22 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the SMAD4 gene. It does not directly change the encoded amino acid sequence of the SMAD4 protein. This variant is present in population databases (rs748992694, ExAC 0.002%). This variant has not been reported in the literature in individuals with SMAD4-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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