ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2106736)_(2190778_?)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 RCV004582712 SCV005062302 pathogenic Tuberous sclerosis 2 2022-11-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TSC2 protein in which other variant(s) (p.Glu1552del) have been determined to be pathogenic (PMID: 11112665, 22903760). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant results in the deletion of exons 9-42 and part of exon 8 (c.740_*52167del) of the TSC2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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