ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8117T>C (p.Val2706Ala)

dbSNP: rs1766648353
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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 RCV003772755 SCV002175604 uncertain significance Familial adenomatous polyposis 1 2021-01-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine 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. 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 valine with alanine at codon 2706 of the APC protein (p.Val2706Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine.

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