ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2098597)_(2108894_?)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 RCV001383833 SCV001583114 pathogenic Tuberous sclerosis 2 2020-09-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-10 of the TSC2 gene, which includes the initiator codon. 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 10 of the TSC2 gene. This is expected to result in an absent or disrupted protein product.

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