ClinVar Miner

Submissions for variant NC_000001.11:g.(?_45329300)_(45333609_?)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 RCV000640422 SCV000762013 pathogenic Familial adenomatous polyposis 2 2017-11-22 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. Deletions of exons 4-16 have been reported in the literature in the homozygous and compound heterozygous state in individuals affected with polyposis and colorectal cancer (PMID: 21962078, 23561487, 24953332). Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 20663686, 18534194). For these reasons, this variant has been classified as Pathogenic.

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