Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000415652 | SCV001517296 | uncertain significance | Familial adenomatous polyposis 1 | 2023-09-21 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 374939). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (rs763487503, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 133 of the APC protein (p.Tyr133Asp). |
Ambry Genetics | RCV003168610 | SCV003866285 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-13 | criteria provided, single submitter | clinical testing | The p.Y133D variant (also known as c.397T>G), located in coding exon 3 of the APC gene, results from a T to G substitution at nucleotide position 397. The tyrosine at codon 133 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is highly 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. |
Knight Diagnostic Laboratories, |
RCV000415652 | SCV000493709 | uncertain significance | Familial adenomatous polyposis 1 | 2016-01-27 | no assertion criteria provided | clinical testing | |
Cancer Genomics Lab, |
RCV003168610 | SCV004011745 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-23 | no assertion criteria provided | clinical testing |