ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2686_2689dup (p.Ile897fs) (rs1554084375)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550401 SCV000647257 pathogenic Familial adenomatous polyposis 1 2017-05-09 criteria provided, single submitter clinical testing This sequence change inserts 4 nucleotides in exon 16 of the APC mRNA (c.2686_2689dupGCCA), causing a frameshift at codon 897. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ile897Serfs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1947 amino acids (~68%) 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). For these reasons, this variant has been classified as Pathogenic.

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