ClinVar Miner

Submissions for variant NM_000038.6(APC):c.316C>T (p.Arg106Cys) (rs1554069763)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555181 SCV000647432 uncertain significance Familial adenomatous polyposis 1 2018-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 106 of the APC protein (p.Arg106Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an 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: "Possibly 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.

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