ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3589T>C (p.Phe1197Leu)

gnomAD frequency: 0.00001  dbSNP: rs1399846917
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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 RCV000562860 SCV000667605 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-04 criteria provided, single submitter clinical testing The p.F1197L variant (also known as c.3589T>C), located in coding exon 15 of the APC gene, results from a T to C substitution at nucleotide position 3589. The phenylalanine at codon 1197 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002232427 SCV001515778 uncertain significance Familial adenomatous polyposis 1 2023-05-02 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 482381). 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 phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1197 of the APC protein (p.Phe1197Leu).

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