ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1873C>A (p.Gln625Lys)

dbSNP: rs876659517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003650730 SCV001390421 uncertain significance Familial adenomatous polyposis 1 2021-10-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with lysine at codon 625 of the APC protein (p.Gln625Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine. This variant has not been reported in the literature in individuals affected with APC-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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