ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-9C>A (rs45515893)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473771 SCV000544491 uncertain significance Tuberous sclerosis 2 2018-01-10 criteria provided, single submitter clinical testing This sequence change falls in intron 40 of the TSC2 mRNA. It does not directly change the encoded amino acid sequence of the TSC2 protein. This variant is not present in population databases (rs45515893, ExAC no frequency). This variant has been reported in individuals affected with tuberous sclerosis in the literature (PMID: 15024740) and in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49853). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.
Tuberous sclerosis database (TSC2) RCV000043119 SCV000066918 not provided Tuberous sclerosis syndrome no assertion provided curation

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