ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6025C>A (p.Pro2009Thr)

dbSNP: rs1554087150
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003742753 SCV000647622 uncertain significance Familial adenomatous polyposis 1 2017-02-20 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 APC-related disease. 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces proline with threonine at codon 2009 of the APC protein (p.Pro2009Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.

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