ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5384C>G (p.Ser1795Ter) (rs1554086694)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545504 SCV000647583 pathogenic Familial adenomatous polyposis 1 2017-08-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Ser1795*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1049 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. This variant removes several domains from the C-terminus of the protein, including the Basic Domain, the EB1 Binding Site, and the HDLG Binding Site, which mediate interactions with the cytoskeleton (PMID: 15311282, 17293347). In addition, different truncations downstream of this variant (p.Arg2204* and p.Ser2022*) have been determined to be pathogenic (Invitae database). 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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