ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5216A>T (p.Lys1739Met) (rs769558291)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551472 SCV000647563 uncertain significance Familial adenomatous polyposis 1 2017-12-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with methionine at codon 1739 of the APC protein (p.Lys1739Met). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and methionine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000777222 SCV000912913 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-10 criteria provided, single submitter clinical testing

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