ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1744-2A>C

dbSNP: rs587783035
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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 RCV004571371 SCV003223791 pathogenic Familial adenomatous polyposis 1 2022-07-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the APC gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely disrupts the C-terminus of the protein. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with familial adenomatous polyposis (FAP) (PMID: 9298819, 15459959, 21315632). It has also been observed to segregate with disease in related individuals. Studies have shown that disruption of this splice site results in skipping of exon 15 (also known as exon 14) and introduces a new termination codon (PMID: 15459959). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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