ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5220dup (p.Ile1741fs)

dbSNP: rs2544496983
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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 RCV003512457 SCV004325643 pathogenic Tuberous sclerosis 2 2023-09-12 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.His1746_Arg1751del) have been determined to be pathogenic (PMID: 9829910, 16114042, 21309039, 31591157). 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 is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile1741Aspfs*34) in the TSC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the TSC2 protein.

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