ClinVar Miner

Submissions for variant NM_000038.6(APC):c.448A>T (p.Lys150Ter) (rs878853444)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231021 SCV000282753 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. 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). For these reasons, this variant has been classified as Pathogenic.
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.

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