ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2114273)_(2138713_?)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 RCV000461505 SCV000563830 uncertain significance Tuberous sclerosis 2 2016-10-24 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 15-last of the TSC2 gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC2-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, this variant is a novel change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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