ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1409-5A>G (rs768109346)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469788 SCV000552551 pathogenic Familial adenomatous polyposis 1 2018-12-11 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with familial adenomatous polyposis (FAP) (PMID: 11247896, 20223039, 20685668, 23159591, Invitae). ClinVar contains an entry for this variant (Variation ID: 411406). Experimental studies have shown that this variant causes skipping of exon 11 (PMID: 24599579), likely resulting in a truncated protein product. For these reasons, this variant has been classified as Pathogenic.

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