ClinVar Miner

Submissions for variant NC_000001.11:g.(?_45329306)_(45333324_?)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 RCV000198458 SCV000253866 pathogenic Familial adenomatous polyposis 2 2016-11-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 4-16 of the MUTYH gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Loss-of-function variants in MUTYH are known to be pathogenic. This particular variant has been reported in the literature in the homozygous and compound heterozygous state in individuals affected with polyposis and colorectal cancer (PMID: 21962078, 23561487, 24953332). For these reasons, this variant has been classified as Pathogenic.

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