ClinVar Miner

Submissions for variant NM_000038.6(APC):c.221-2A>T

dbSNP: rs786201291
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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 RCV003773489 SCV002311259 pathogenic Familial adenomatous polyposis 1 2023-09-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1520547). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in activation of a cryptic splice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. Disruption of this splice site has been observed in individual(s) with familial adenomatous polyposis (PMID: 23159591; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 3 of the APC gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.

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