ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.-1C>T (rs759284466)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164494 SCV000215143 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-08 criteria provided, single submitter clinical testing The c.-1C>T variant is located in the 5' untranslated region (5&rsquo; UTR) of the STK11 gene. This variant results from a C to T substitution 1 base upstream from the first translated codon. <span style="background-color:initial">This nucleotide position is poorly conserved in available vertebrate species. <span style="background-color:initial">Since supporting evidence is limited at this time, the clinical significance of this alteration<span style="background-color:initial"> remains unclear.
GeneDx RCV000431625 SCV000523220 likely benign not specified 2016-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000431625 SCV000920285 uncertain significance not specified 2018-12-07 criteria provided, single submitter clinical testing Variant summary: STK11 c.-1C>T is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 1.1e-05 in 182860 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.-1C>T has been reported in the literature in individuals affected with Lynch syndrome associated cancer (Yurgelun_2015). These report(s) do not provide unequivocal conclusions about association of the variant with Peutz-Jeghers Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986036 SCV001134839 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164494 SCV001341888 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing

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