ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.464+8C>T (rs863224669)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196711 SCV000254552 uncertain significance Peutz-Jeghers syndrome 2018-09-11 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the STK11 mRNA. 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 an STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 216432). Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic sequence change may alter mRNA 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506144 SCV000602225 uncertain significance not specified 2017-06-08 criteria provided, single submitter clinical testing
Color RCV000582726 SCV000691507 likely benign Hereditary cancer-predisposing syndrome 2015-10-09 criteria provided, single submitter clinical testing
Counsyl RCV000196711 SCV000785949 likely benign Peutz-Jeghers syndrome 2018-01-18 criteria provided, single submitter clinical testing

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