Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000572210 | SCV000667784 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-17 | criteria provided, single submitter | clinical testing | The c.8119_8120delGGinsTCGTT variant (also known as p.G2707delinsSF), located in coding exon 15 of the APC gene, results from an in-frame deletion of GG and insertion of TCGTT at nucleotide positions 8119 to 8120. This results in the substitution of the glycine residue for serine and phenylalanine residues at codon 2707. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral 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. |
| Invitae | RCV003114692 | SCV003785844 | uncertain significance | Familial adenomatous polyposis 1 | 2022-01-13 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 variant, c.8119_8120delinsTCGTT, is a complex sequence change that results in the deletion of 1 and insertion of 2 amino acid(s) in the APC protein (p.Gly2707delinsSerPhe). |