ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7807_7811del (p.Glu2603fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004806847 SCV005429879 pathogenic Classic or attenuated familial adenomatous polyposis 2024-09-16 criteria provided, single submitter clinical testing This variant deletes 5 nucleotides in exon 16 of the APC gene, creating a frameshift and premature translation stop signal in the last coding exon. This variant is predicted to escape nonsense-mediated decay and be expressed as a truncated protein. Although functional studies have not been reported, this variant is expected to disrupt the EB1-binding and HDLG-binding sites (PMID: 17881494). To our knowledge, this variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of APC function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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