ClinVar Miner

Submissions for variant NM_000038.6(APC):c.531+2dup (rs1060503257)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458186 SCV000552449 pathogenic Familial adenomatous polyposis 1 2018-02-19 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the APC gene. It does not directly change the encoded amino acid sequence of the APC protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with familial adenomatous polyposis (FAP) and attenuated FAP (PMID: 23159591, 15131404). In one of these individuals, the variant was shown to arise de novo (PMID: 15131404). ClinVar contains an entry for this variant (Variation ID: 411336). Experimental studies have shown that this variant disrupts splicing, leading to the deletion of exon 4 and causing a downstream frameshift and subsequent premature stop codon (PMID: 15131404). For these reasons, this variant has been classified as Pathogenic.

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