ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5995C>G (p.Pro1999Ala) (rs1554087136)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533353 SCV000647619 uncertain significance Familial adenomatous polyposis 1 2017-05-30 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 1999 of the APC protein (p.Pro1999Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an APC-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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on APC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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