ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2924A>C (p.Lys975Thr)

dbSNP: rs1765296512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003650813 SCV001404978 uncertain significance Familial adenomatous polyposis 1 2019-07-23 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 975 of the APC protein (p.Lys975Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with APC-related conditions.

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