ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.139-6C>G

dbSNP: rs778516569
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466793 SCV000544384 uncertain significance Tuberous sclerosis 2 2019-07-11 criteria provided, single submitter clinical testing In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC2-related disease. This sequence change falls in intron 2 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein.

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