ClinVar Miner

Submissions for variant NM_000038.6(APC):c.500A>G (p.Lys167Arg)

dbSNP: rs553005258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002560678 SCV002205224 uncertain significance Familial adenomatous polyposis 1 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 167 of the APC protein (p.Lys167Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1430533). 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 with a negative predictive value of 95%. 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.
Ambry Genetics RCV004041956 SCV005032972 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-17 criteria provided, single submitter clinical testing The p.K167R variant (also known as c.500A>G), located in coding exon 4 of the APC gene, results from an A to G substitution at nucleotide position 500. The lysine at codon 167 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004804314 SCV005428031 uncertain significance Classic or attenuated familial adenomatous polyposis 2024-03-05 criteria provided, single submitter clinical testing

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