ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4175C>A (p.Ser1392Ter) (rs786204170)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168194 SCV000218859 pathogenic Familial adenomatous polyposis 1 2014-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1392 ((p.Ser1392*). It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in APC are known to be pathogenic (PMID: 17963004, 20685668).This particular truncation has been reported in an individual affected with familial adenomatous polyposis (PMID: 10094547) For these reasons, this sequence change has been classified as Pathogenic.

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