ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.260G>C (p.Arg87Pro)

dbSNP: rs1060500735
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230764 SCV000543744 uncertain significance Juvenile polyposis syndrome 2016-06-14 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change replaces arginine with proline at codon 87 of the SMAD4 protein (p.Arg87Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline.

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