Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003742814 | SCV000647767 | uncertain significance | Familial adenomatous polyposis 1 | 2017-05-02 | criteria provided, single submitter | clinical testing | In summary, this is a novel truncation with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 2781 (p.Val2781*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 63 amino acids of the APC protein. |