ClinVar Miner

Submissions for variant NM_000038.6(APC):c.925G>T (p.Gly309Ter)

dbSNP: rs786204118
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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 RCV000168066 SCV002233315 pathogenic Familial adenomatous polyposis 1 2014-10-18 criteria provided, single submitter clinical testing This sequence change was reported in an individual affected with sporadic colorectal cancer (PMID: 23085758). For these reasons, this sequence change has been classified as Pathogenic. Truncating sequence changes in APC are known to be pathogenic (PMID: 17963004). This particular truncation has been reported in the literature. This sequence change creates a premature translational stop signal at codon 309 (p.Gly309*). It is expected to result in an absent or disrupted protein product.

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