ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) (rs137854268)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536324 SCV000644465 uncertain significance Tuberous sclerosis 2 2018-04-17 criteria provided, single submitter clinical testing This sequence change affects codon 1221 of the TSC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TSC2 protein. This variant is present in population databases (rs137854268, ExAC 0.003%) but has not been reported in the literature in individuals with a TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 49533). 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.
Tuberous sclerosis database (TSC2) RCV000042793 SCV000066589 not provided Tuberous sclerosis syndrome no assertion provided curation

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