Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000582351 | SCV000687004 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-18 | criteria provided, single submitter | clinical testing | This variant replaces 6 consecutive amino acids from codons 1727 through 1732 of the APC protein with tryptophan. 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. |
Invitae | RCV002232531 | SCV000817897 | uncertain significance | Familial adenomatous polyposis 1 | 2021-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000582351 | SCV002643146 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | The c.5181_5195del15 variant (also known as p.C1727_M1732delinsW) is located in coding exon 15 of the APC gene. This variant results from an in-frame CATTAATTCTGCTAT deletion at nucleotide positions 5181 to 5195. The amino acids at codons 1727 to 1732 are replaced by a tryptophan residue. These amino acid positions are highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |