Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522391 | SCV000617338 | pathogenic | not provided | 2017-06-27 | criteria provided, single submitter | clinical testing | This variant is denoted APC c.2077A>T at the cDNA level and p.Lys693Ter (K693X) at the protein level.The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), and ispredicted to cause loss of normal protein function through protein truncation. This variant has been reported in at leastone individual with polyps and early onset colorectal cancer (Mutoh 2006) and is considered pathogenic |