ClinVar Miner

Submissions for variant NM_000038.6(APC):c.423-5_423-3del (rs876657408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471040 SCV000552734 uncertain significance Familial adenomatous polyposis 1 2016-05-03 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the APC mRNA. It does not directly change the encoded amino acid sequence of the APC protein. This variant affects nucleotides near the consensus splice site of intron 4, although the splice acceptor dinucleotide (AG) sequence is preserved. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with Cenani-Lenz syndrome (PMID: 25676610). It is also known as c.423-5_423-3delAAT in the literature. Experimental studies have shown that this deletion results in skipping of exon 5 in the RNA of affected individuals (PMID: 25676610). In summary, this variant is a rare intronic change that is expected to alter mRNA splicing. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000185617 SCV000238529 uncertain significance not provided 2015-05-01 no assertion criteria provided literature only

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