ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3300C>T (p.Ser1100=) (rs754282309)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471445 SCV000552259 uncertain significance Tuberous sclerosis 1 2016-11-25 criteria provided, single submitter clinical testing This sequence change affects codon 1100 of the TSC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TSC1 protein. This variant is present in population databases (rs754282309, ExAC 0.009%) but has not been reported in the literature in individuals with a TSC1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV000612784 SCV000723902 likely benign not specified 2017-10-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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