ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.558C>A (p.Thr186=)

dbSNP: rs749563734
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462060 SCV000541129 uncertain significance Peutz-Jeghers syndrome 2016-08-27 criteria provided, single submitter clinical testing This sequence change affects codon 186 of the STK11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the STK11 protein. 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. This variant is present in population databases (rs749563734, ExAC 0.007%) but has not been reported in the literature in individuals with a STK11-related disease. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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