ClinVar Miner

Submissions for variant NC_000012.12:g.(?_132660959)_(132687325_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032268 SCV001195575 uncertain significance Colorectal cancer, susceptibility to, 12 2019-07-02 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-25 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 25 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 POLE-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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