ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6623A>C (p.Glu2208Ala) (rs777612081)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525353 SCV000647656 uncertain significance Familial adenomatous polyposis 1 2018-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 2208 of the APC protein (p.Glu2208Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is present in population databases (rs777612081, ExAC 0.002%) but 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000775343 SCV000909618 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-14 criteria provided, single submitter clinical testing

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