ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6260A>T (p.Asp2087Val)

dbSNP: rs2149960886
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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 RCV004571508 SCV002154356 uncertain significance Familial adenomatous polyposis 1 2021-09-14 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with valine at codon 2087 of the APC protein (p.Asp2087Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine.

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