ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2131020)_(2133730_?)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 RCV003105242 SCV003794266 likely pathogenic Tuberous sclerosis 2 2022-05-09 criteria provided, single submitter clinical testing This variant results in the deletion of exons 31-32 and part of exon 33 (c.3611-574_3920del) 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). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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