ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3353A>C (p.Asn1118Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801003 SCV000940751 uncertain significance Familial adenomatous polyposis 1 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 1118 of the APC protein (p.Asn1118Thr). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and threonine. This variant is present in population databases (rs752011683, ExAC 0.02%). This variant has not been reported in the literature in individuals with APC-related conditions. 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, 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.

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