Submissions for variant NM_000038.6(APC):c.448A>T (p.Lys150Ter)

dbSNP: rs878853444

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000657600	SCV000779340	pathogenic	not provided	2016-07-11	criteria provided, single submitter	clinical testing	This variant is denoted APC c.448A>T at the cDNA level and p.Lys150Ter (K150X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been identified in an individual with between 40 and 100 colon polyps, multiple gastroduodenal polyps, as well as gastric cancer (Tao 2010), and is considered pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563238	SCV002184789	pathogenic	Familial adenomatous polyposis 1	2015-12-20	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal at codon 150 (p.Lys150*). It is expected to result in an absent or disrupted protein product. 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 attenuated familial adenomatous polyposis (PMID: 21078199).