Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001177148 | SCV001341309 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844094 | SCV002103414 | uncertain significance | not specified | 2022-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003535626 | SCV002310851 | uncertain significance | Familial adenomatous polyposis 1 | 2023-07-25 | 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: 236619). 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 threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1783 of the APC protein (p.Thr1783Ile). |
Ambry Genetics | RCV001177148 | SCV002647073 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-01-05 | criteria provided, single submitter | clinical testing | The p.T1783I variant (also known as c.5348C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 5348. The threonine at codon 1783 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly 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. |