ClinVar Miner

Submissions for variant NC_000016.10:g.(?_2053322)_(2092208_?)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 RCV000708500 SCV000837610 pathogenic Tuberous sclerosis 2 2018-01-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 4-42 of the TSC2 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 removing ~95% of the amino acids. Similar gross deletions, removing large portions of the C-terminal region of the protein, have been reported in individuals with tuberous sclerosis complex in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.

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