Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003650455 | SCV000552587 | pathogenic | Familial adenomatous polyposis 1 | 2016-07-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in a patient affected with familial adenomatous polyposis (PMID: 23159591). This sequence change deletes 4 nucleotides from exon 16 of the APC mRNA (c.3298_3301delTCTC), causing a frameshift at codon 1100. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ser1100Hisfs*25). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein. |
Mayo Clinic Laboratories, |
RCV000202195 | SCV000256971 | likely pathogenic | not provided | no assertion criteria provided | research |