ClinVar Miner

Submissions for variant NC_000005.9:g.(?_112173240)_(112179823_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004565757 SCV003790086 pathogenic Familial adenomatous polyposis 1 2021-08-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 16 of the APC gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individuals with familial adenomatous polyposis (PMID: 17568392; Invitae). This variant deletes approximately 65% of the APC protein including the 15- or 20-residue repeat domain, the SAMP repeats, the basic domain, and C-terminal domains which are important for correct APC protein function (PMID: 11257105, 14672538). While functional studies have not been performed to directly test the effect of this variant on APC protein function, this suggests that disruption of this region of the protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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