ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2561G>A (p.Arg854Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002452736 SCV002740217 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-31 criteria provided, single submitter clinical testing The p.R854K variant (also known as c.2561G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 2561. The arginine at codon 854 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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 RCV004565593 SCV004525721 uncertain significance Familial adenomatous polyposis 1 2022-12-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1793125). 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). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 854 of the APC protein (p.Arg854Lys). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function.
All of Us Research Program, National Institutes of Health RCV004007436 SCV004818643 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-03-28 criteria provided, single submitter clinical testing

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