ClinVar Miner

Submissions for variant NC_000005.9:g.(?_112136966)_(112155051_?)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 RCV004580484 SCV005063015 pathogenic Familial adenomatous polyposis 1 2023-10-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8-10 of the APC gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). A similar copy number variant has been observed in individual(s) with personal or family history of APC-related conditions (PMID: 23159591). For these reasons, this variant has been classified as Pathogenic.

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