ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2615C>G (p.Thr872Ser)

dbSNP: rs1554084311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003742616 SCV000647251 uncertain significance Familial adenomatous polyposis 1 2017-06-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 872 of the APC protein (p.Thr872Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. In summary, this variant has uncertain impact on APC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a APC-related disease. This variant is not present in population databases (ExAC no frequency).

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