ClinVar Miner

Submissions for variant NM_000038.6(APC):c.667C>T (p.Gln223Ter) (rs1554074738)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502052 SCV000591046 pathogenic Familial adenomatous polyposis criteria provided, single submitter clinical testing
GeneDx RCV000657601 SCV000779342 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing This variant is denoted APC c.667C>T at the cDNA level and p.Gln223Ter (Q223X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with Familial Adenomatous Polyposis, as well as in an individual with a Lynch syndrome-associated cancer and/or polyps (Lagarde 2010, Yurgelun 2015). We consider this variant to be pathogenic.
Invitae RCV000700265 SCV000829013 pathogenic Familial adenomatous polyposis 1 2018-06-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln223*) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with familial adenomatous polyposis (PMID: 20685668). ClinVar contains an entry for this variant (Variation ID: 433610). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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