ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3463G>A (p.Glu1155Lys) (rs774847322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580534 SCV000681605 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-17 criteria provided, single submitter clinical testing
Invitae RCV000692189 SCV000820000 uncertain significance Familial adenomatous polyposis 1 2018-05-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1155 of the APC protein (p.Glu1155Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs774847322, ExAC 0.002%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 489439). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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