ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5320_5326del (p.Ser1774fs)

dbSNP: rs2091199193
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050806 SCV001214931 uncertain significance Tuberous sclerosis 2 2022-04-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 847289). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the TSC2 gene (p.Ser1774Profs*50). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 34 amino acid(s) of the TSC2 protein and extend the protein by 15 additional amino acid residues.

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