ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1463T>C (p.Leu488Pro)

dbSNP: rs368434773
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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 RCV002388186 SCV002697196 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-28 criteria provided, single submitter clinical testing The p.L488P variant (also known as c.1463T>C), located in coding exon 11 of the APC gene, results from a T to C substitution at nucleotide position 1463. The leucine at codon 488 is replaced by proline, an amino acid with 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091972 SCV005734325 uncertain significance Familial adenomatous polyposis 1 2024-09-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 488 of the APC protein (p.Leu488Pro). This variant is present in population databases (rs368434773, gnomAD 0.007%). 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: 559962). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
3DMed Clinical Laboratory Inc RCV000677774 SCV000803930 uncertain significance Colon adenocarcinoma 2018-01-18 no assertion criteria provided clinical testing

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