ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3871C>T (p.Gln1291Ter) (rs1561588104)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697755 SCV000826383 pathogenic Familial adenomatous polyposis 1 2018-04-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Gln1291*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1553 amino acids (~55%) of the APC protein. 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: 16088911). Multiple truncating variants downstream of this variant have been reported as pathogenic in individuals with FAP (PMID: 20223039, 8990002). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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