ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2120437)_(2123004_?)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 RCV001383832 SCV001583113 pathogenic Tuberous sclerosis 2 2020-02-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Deletion of the region of the TSC2 gene that includes exon(s) 20 has been determined to be clinically significant (PMID: 11281455, 10205261, 17287951). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant is an in-frame deletion of the genomic region encompassing exons 17-21 of the TSC2 gene. It preserves the integrity of the reading frame.

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