ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1192A>C (p.Lys398Gln) (rs765196085)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687212 SCV000814767 uncertain significance Familial adenomatous polyposis 1 2018-01-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 398 of the APC protein (p.Lys398Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs765196085, ExAC 0.002%). This variant has not been reported in the literature in individuals with 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, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758718 SCV000887499 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Color RCV000776477 SCV000912031 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-24 criteria provided, single submitter clinical testing

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