Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003742629 | SCV000647283 | uncertain significance | Familial adenomatous polyposis 1 | 2017-05-11 | criteria provided, single submitter | clinical testing | This sequence change deletes 3 nucleotides from exon 16 of the APC mRNA (c.2939_2941delAAC). This leads to the deletion of 2 amino acid residues and the insertion of 1 unrelated amino acid in the APC protein (p.Lys980_Pro981delinsThr) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772573597, ExAC 0.009%) but has not been reported in the literature in individuals with a APC-related disease. In summary, this is a rare complex change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted and inserted amino acids is currently unknown. |