ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1263+4C>T (rs1554817077)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539194 SCV000641492 uncertain significance Tuberous sclerosis 1 2018-09-13 criteria provided, single submitter clinical testing This sequence change falls in intron 12 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 not been reported in the literature in individuals with TSC1-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, 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.
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000853543 SCV000996513 not provided not provided no assertion provided in vivo

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