ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.465-5C>A (rs567202367)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781890 SCV000920275 uncertain significance not specified 2018-02-26 criteria provided, single submitter clinical testing Variant summary: STK11 c.465-5C>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: 3/5 tools predict the variant to disrupt the canonical splice site and create, and possibly utilize, a cryptic acceptor site. However, these predictions have yet to be confirmed by functional studies. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.465-5C>A in individuals affected with Peutz-Jeghers Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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