ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2653G>A (p.Ala885Thr)

dbSNP: rs1344158460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004561521 SCV000647254 uncertain significance Familial adenomatous polyposis 1 2022-03-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 469764). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 885 of the APC protein (p.Ala885Thr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with APC-related conditions. 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: "Benign"; 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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