ClinVar Miner

Submissions for variant NC_000005.10:g.(?_112815495)_(112821991_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461835 SCV000564021 pathogenic Familial adenomatous polyposis 1 2016-06-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 9-11 of the APC gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. A gross deletion encompassing the same exons has been reported in the literature in an individual affected with familial adenomatous polyposis (PMID: 23159591). In the literature, this copy number change is reported as a deletion of exons 8-10. For these reasons, this variant has been classified as Pathogenic.

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