Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003535902 | SCV000938484 | uncertain significance | Familial adenomatous polyposis 1 | 2023-09-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 141 of the APC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the APC protein. This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 644861). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Color Diagnostics, |
RCV001177511 | SCV001341738 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-17 | criteria provided, single submitter | clinical testing | This variant is a synonymous variant in exon 4 of the APC gene. Results from splicing predictions are inconclusive. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer 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. |
Ambry Genetics | RCV001177511 | SCV002630097 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-15 | criteria provided, single submitter | clinical testing | The c.421A>C variant (also known as p.R141R), located in coding exon 3 of the APC gene, results from an A to C substitution at nucleotide position 421. This nucleotide substitution does not change the arginine at codon 141. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |