Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003535997 | SCV000950682 | uncertain significance | Familial adenomatous polyposis 1 | 2022-09-06 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 654506). 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 1849 of the APC protein (p.Ile1849Thr). |
| Ambry Genetics | RCV002345835 | SCV002648783 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-07-08 | criteria provided, single submitter | clinical testing | The p.I1849T variant (also known as c.5546T>C), located in coding exon 15 of the APC gene, results from a T to C substitution at nucleotide position 5546. The isoleucine at codon 1849 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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. |