ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1402G>T (p.Glu468Ter)

dbSNP: rs1060503340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766589 SCV000552693 pathogenic Familial adenomatous polyposis 1 2017-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 468 (p.Glu468*) of the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with familial adenomatous polyposis (PMID: 19531215). For these reasons, this variant has been classified as Pathogenic.

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