ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1424T>C (p.Ile475Thr)

dbSNP: rs1554081639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580504 SCV000681459 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing
Invitae RCV003537215 SCV000835464 uncertain significance Familial adenomatous polyposis 1 2022-11-07 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: 489414). 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 isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 475 of the APC protein (p.Ile475Thr).
Ambry Genetics RCV000580504 SCV002697390 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-27 criteria provided, single submitter clinical testing The p.I475T variant (also known as c.1424T>C), located in coding exon 11 of the APC gene, results from a T to C substitution at nucleotide position 1424. The isoleucine at codon 475 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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