ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7026A>T (p.Leu2342Phe)

dbSNP: rs766086022
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002526319 SCV000647688 uncertain significance Familial adenomatous polyposis 1 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2342 of the APC protein (p.Leu2342Phe). 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: 470074). 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. 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 RCV000568988 SCV000667781 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-14 criteria provided, single submitter clinical testing The p.L2342F variant (also known as c.7026A>T), located in coding exon 15 of the APC gene, results from an A to T substitution at nucleotide position 7026. The leucine at codon 2342 is replaced by phenylalanine, 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.
3DMed Clinical Laboratory Inc RCV000677748 SCV000803904 uncertain significance Neoplasm of stomach 2017-05-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000568988 SCV001346689 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-03 criteria provided, single submitter clinical testing
GeneDx RCV002307541 SCV002601187 uncertain significance not provided 2022-11-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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