Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780857 | SCV000918475 | uncertain significance | not specified | 2018-12-04 | criteria provided, single submitter | clinical testing | Variant summary: APC c.3837_3845dupTTTGTCATC (p.Leu1280_Ser1282dup) results in an in-frame insertion that is predicted to duplicate three amino acids into the encoded protein. The variant was absent in 30986 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3837_3845dupTTTGTCATC in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Ambry Genetics | RCV002352297 | SCV002621657 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-28 | criteria provided, single submitter | clinical testing | The c.3837_3845dupTTTGTCATC variant (also known as p.L1280_S1282dup), located in coding exon 15 of the APC gene, results from an in-frame duplication of TTTGTCATC at nucleotide positions 3837 to 3845. This results in the duplication of 3 amino acid residues (LSS) between codons 1280 and 1282. These amino acid positions are highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |