ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3629_3630AT[1] (p.Met1211fs) (rs1554085190)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556620 SCV000647461 pathogenic Familial adenomatous polyposis 1 2017-06-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Met1211Valfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1633 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with familial adenomatous polyposis (PMID: 16088911, 19531215, 19793053, 20685668, 20513532) and in individuals in the Universal Mutation Database (PMID: 24599579). Loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic.

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