ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7867A>G (p.Thr2623Ala)

dbSNP: rs1060503368
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766599 SCV000552757 uncertain significance Familial adenomatous polyposis 1 2024-12-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2623 of the APC protein (p.Thr2623Ala). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 411551). 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.
Color Diagnostics, LLC DBA Color Health RCV000775753 SCV000910187 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775753 SCV002680967 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter clinical testing The p.T2623A variant (also known as c.7867A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 7867. The threonine at codon 2623 is replaced by alanine, an amino acid with similar properties. This amino acid position is not 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493584 SCV004243259 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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