ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1408+729A>G

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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 RCV005154441 SCV005781938 pathogenic Familial adenomatous polyposis 1 2025-01-06 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the APC gene. It does not directly change the encoded amino acid sequence of the APC protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of familial adenomatous polyposis (PMID: 27683109). Studies have shown that this variant results in activation of a cryptic splice site, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 27683109; internal data). For these reasons, this variant has been classified as Pathogenic.

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