ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3343del (p.Val1115fs) (rs1554084945)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551126 SCV000647443 pathogenic Familial adenomatous polyposis 1 2017-01-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 16 of the APC mRNA (c.3343delG), causing a frameshift at codon 1115. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Val1115Trpfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1729 amino acids of the APC protein. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004) and multiple truncating variants located downstream of this variant have been determined to be pathogenic (Invitae database). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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