ClinVar Miner

Submissions for variant NC_000005.10:g.(?_112707312)_(112844126_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820596 SCV000961313 pathogenic Familial adenomatous polyposis 1 2020-01-07 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the APC gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions encompassing the entire APC sequence have been observed in individuals with familial adenomatous polyposis (PMID: 18487285, 19279422, 21643010). ClinVar contains an entry for this variant (Variation ID: 236555). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000820596 SCV002128184 pathogenic Familial adenomatous polyposis 1 2023-12-15 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the APC gene has been identified. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with familial adenomatous polyposis (PMID: 18487285, 19279422, 21643010). For these reasons, this variant has been classified as Pathogenic.

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