ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.211-3C>T (rs1564501920)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697715 SCV000826341 uncertain significance Tuberous sclerosis 1 2018-06-01 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the TSC1 gene. It does not directly change the encoded amino acid sequence of the TSC1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual referred for tuberous sclerosis complex testing in the Leiden Open-source Variation Database (PMID: 21520333). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA 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.

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