ClinVar Miner

Submissions for variant NC_000012.12:g.(?_132632295)_(132687335_?)dup

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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 RCV001033092 SCV001196399 uncertain significance Colorectal cancer, susceptibility to, 12 2019-06-07 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-45 of the POLE gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 45 of the POLE gene. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with a POLE-related disease. In summary, the genomic location of this duplication is unknown and the impact of this variant on POLE protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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