ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3827C>G (p.Ser1276Ter) (rs1060503299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646441 SCV000768213 pathogenic Familial adenomatous polyposis 1 2017-08-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of theAPC gene (p.Ser1276*).  While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1568 amino acids (~55%) of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several families affected with familial adenomatous polyposis (PMID: 9452101, 10094547, 15108286). A different variant (c.3827C>A) giving rise to the same protein effect observed here (p.Ser1276*) has also been reported in individuals affected with familial adenomatous polyposis (PMID: 18433509, 9452101), indicating that that the C-terminal portion of the APC protein may be critical for protein function and clinically important. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000581700 SCV000691743 pathogenic not provided no assertion criteria provided clinical testing

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