ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.465-3C>T (rs587781619)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129708 SCV000184509 uncertain significance Hereditary cancer-predisposing syndrome 2013-10-16 criteria provided, single submitter clinical testing
Invitae RCV000469246 SCV000541150 uncertain significance Peutz-Jeghers syndrome 2016-10-17 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the STK11 gene. It does not directly change the encoded amino acid sequence of the STK11 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 141268). 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 intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000469246 SCV000839414 uncertain significance Peutz-Jeghers syndrome 2018-07-02 criteria provided, single submitter clinical testing

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