ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3306C>G (p.Tyr1102Ter) (rs879254092)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550072 SCV000647440 pathogenic Familial adenomatous polyposis 1 2018-01-08 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 1102 (p.Tyr1102*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1742 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in patients affected with familial adenomatous polyposis (FAP) (PMID: 1316610). A different variant c.3306C>A giving rise to the same protein effect observed here (p.Tyr1102*) have been reported in individuals affected with familial adenomatous polyposis (FAP) (PMID: 18224684). Many truncation downstream of this variant has been determined to be pathogenic (PMID: 20685668, 20223039, 1316610, 23159591, 24664542). 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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