ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5408_5409insG (p.Phe1803fs)

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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 RCV002899403 SCV003242751 likely pathogenic Tuberous sclerosis 2 2022-10-25 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TSC2 gene (p.Phe1803Leufs*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the TSC2 protein and extend the protein by an uncertain number of additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant results in an extension of the TSC2 protein. Other variant(s) that result in a similarly extended protein product (p.Thr1804Hisfs*82, p.*1808Argext*) have been observed in individuals with TSC2-related disease (PMID: 9328481, 23389244; Invitae). This suggests that these extensions may be clinically significant. 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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