ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1987C>T (p.Gln663Ter) (rs730881240)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159538 SCV000209500 pathogenic not provided 2014-07-08 criteria provided, single submitter clinical testing This pathogenic variant is denoted APC c.1987C>T at the cDNA level and p.Gln663Ter (Q663X) 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 protein truncation. According to HGMD, This variant has been reported in a clinical FAP case (Konvalinka 2004) and is considered pathogenic.
Invitae RCV000463708 SCV000552773 pathogenic Familial adenomatous polyposis 1 2016-12-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 663 (p.Gln663*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 2181 amino acids of the APC protein. Loss-of-function variants in APC are known to be pathogenic. This particular variant has been reported in the literature in an individual with familial adenomatous polyposis (PMID: 15446460) and in an individual with clinical history of colon and thyroid cancer (PMID: 26681312). For these reasons, this variant has been classified as Pathogenic.

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