ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2545G>A (p.Asp849Asn) (rs752193945)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556105 SCV000647243 uncertain significance Familial adenomatous polyposis 1 2018-12-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 849 of the APC protein (p.Asp849Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs752193945, ExAC 0.006%). ClinVar contains an entry for this variant (Variation ID: 469753). This variant has not been reported in the literature in individuals with 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, 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.
Color RCV000580265 SCV000681530 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing

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