ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7265C>T (p.Thr2422Ile)

gnomAD frequency: 0.00002  dbSNP: rs1377799096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003534724 SCV000833578 uncertain significance Familial adenomatous polyposis 1 2023-09-19 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2422 of the APC protein (p.Thr2422Ile). 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: 580941). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284367 SCV001470117 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386266 SCV002672058 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-16 criteria provided, single submitter clinical testing The p.T2422I variant (also known as c.7265C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 7265. The threonine at codon 2422 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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.

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