ClinVar Miner

Submissions for variant NM_000038.6(APC):c.335C>G (p.Pro112Arg) (rs1060503357)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461562 SCV000552733 uncertain significance Familial adenomatous polyposis 1 2016-10-12 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 112 of the APC protein (p.Pro112Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C25"). 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.

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