ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1322C>T (p.Pro441Leu)

dbSNP: rs1763167481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184908 SCV001350996 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-20 criteria provided, single submitter clinical testing
Invitae RCV003537506 SCV001418488 uncertain significance Familial adenomatous polyposis 1 2019-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 441 of the APC protein (p.Pro441Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with APC-related conditions. This variant is not present in population databases (ExAC no frequency).

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