ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1548+1G>A (rs1114167599)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530368 SCV000647184 pathogenic Familial adenomatous polyposis 1 2018-06-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 of the APC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant was reported to segregate with familial adenomatous polyposis (FAP) in a family (PMID: 11933206). It has also been reported in individuals affected with colorectal cancer and FAP (PMID: 25604157, 20685668). This variant is also known as IVS11+1G>A in the literature. Experimental studies have shown that this variant increases skipping of exon 12 (also known as exon 11) of the APC gene (PMID: 22987206). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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