ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1744-2A>G (rs587783035)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000144573 SCV000552754 pathogenic Familial adenomatous polyposis 1 2016-05-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the APC gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in many individuals and family affected with familial adenomatous polyposis (FAP) and has been found to segregate with disease in at least one family (PMID: 8990002, 11247896, 15459959, 20223039, 20564245, 9298819). Experimental studies have shown that this change promotes aberrant splicing, leading to the production of an alternative APC transcript lacking exon 14 and low-molecular-weight APC proteins (PMID: 15459959, 9298819). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500538 SCV000591088 uncertain significance not specified 2013-11-15 criteria provided, single submitter clinical testing
Pathway Genomics RCV000144573 SCV000189872 pathogenic Familial adenomatous polyposis 1 2014-07-24 no assertion criteria provided clinical testing

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