ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3104A>C (p.Gln1035Pro)

dbSNP: rs1060503303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230525 SCV000552593 uncertain significance Familial adenomatous polyposis 1 2016-12-22 criteria provided, single submitter clinical testing 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 variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. This sequence change replaces glutamine with proline at codon 1035 of the APC protein (p.Gln1035Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline.

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