ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1098A>G (p.Gln366=) (rs990054989)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777277 SCV000912979 likely benign Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000608407 SCV000719373 likely benign not specified 2017-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000545033 SCV000632747 uncertain significance Juvenile polyposis syndrome 2017-03-20 criteria provided, single submitter clinical testing This sequence change affects codon 366 of the SMAD4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMAD4 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SMAD4-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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