ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2121059)_(2130344_?)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 RCV004582706 SCV005062296 pathogenic Tuberous sclerosis 2 2023-06-05 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.Arg622Trp) have been determined to be pathogenic (PMID: 20633017, 21309039, 21520333, 21846442, 22867869, 28211972). 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 18-29 and part of exon 30 (c.1840-452_3576del) of the TSC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050).

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