ClinVar Miner

Submissions for variant NC_000005.9:g.(?_112154653)_(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 RCV004565758 SCV003790087 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) 10-16 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 individual(s) with familial adenomatous polyposis (PMID: 17568392, 20223039). This variant is also known as deletion of exons 9-15. The region of the APC gene that includes exon(s) 16 has been determined to be clinically significant (PMID: 1316610, 1338764, 10083733, 17568392, 20685668; Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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