ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1283C>A (p.Ser428Ter)

dbSNP: rs587781537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202790 SCV001373916 uncertain significance Peutz-Jeghers syndrome 2019-10-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the STK11 gene (p.Ser428*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acids of the STK11 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with STK11-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.

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