Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020588 | SCV001182087 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-19 | criteria provided, single submitter | clinical testing | The c.3551_3559delCCACAGATAinsTTTCTG variant, also known as p.A1184_I1187delinsVSV, located in coding exon 15 of the APC gene, results from an in-frame deletion of CCACAGATA and insertion of TTTCTG at nucleotide positions 3551 to 3559. This results in the deletion of 4 residues (ATDI) and insertion of 3 residues (VSV) at codon 1184 to 1187. This amino acid region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |