ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8009G>T (p.Arg2670Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419198 SCV002679751 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-19 criteria provided, single submitter clinical testing The p.R2670I variant (also known as c.8009G>T), located in coding exon 15 of the APC gene, results from a G to T substitution at nucleotide position 8009. The arginine at codon 2670 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV004572371 SCV003288486 uncertain significance Familial adenomatous polyposis 1 2022-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 2670 of the APC protein (p.Arg2670Ile). 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. 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 C0"). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency).

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