Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003742764 | SCV000647640 | likely benign | Familial adenomatous polyposis 1 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000583903 | SCV000687077 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-05 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with glutamine at codon 213 of the APC protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Laboratory for Molecular Medicine, |
RCV000602624 | SCV000712783 | uncertain significance | not specified | 2017-01-25 | criteria provided, single submitter | clinical testing | The p.Arg213Gln variant in APC has not been previously reported in individuals w ith APC-associated polyposis or in large population studies. Computational predi ction tools and conservation analysis do not clearly argue for or against an imp act to the protein. In summary, the clinical significance of the p.Arg213Gln var iant is uncertain. |
| Ambry Genetics | RCV000583903 | SCV002655441 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-28 | criteria provided, single submitter | clinical testing | The p.R213Q variant (also known as c.638G>A), located in coding exon 5 of the APC gene, results from a G to A substitution at nucleotide position 638. The arginine at codon 213 is replaced by glutamine, an amino acid with highly similar 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. |