ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6050C>T (p.Thr2017Ile)

dbSNP: rs1766123052
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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 RCV004564488 SCV001207543 uncertain significance Familial adenomatous polyposis 1 2019-12-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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. This sequence change replaces threonine with isoleucine at codon 2017 of the APC protein (p.Thr2017Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency).

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