ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.375-7G>A (rs587781176)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128292 SCV000171884 benign not specified 2014-03-20 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.
Invitae RCV000195449 SCV000253252 likely benign Peutz-Jeghers syndrome 2017-12-21 criteria provided, single submitter clinical testing
Counsyl RCV000195449 SCV000489016 likely benign Peutz-Jeghers syndrome 2016-08-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000128292 SCV000602222 likely benign not specified 2016-12-17 criteria provided, single submitter clinical testing
Color RCV000580100 SCV000686642 likely benign Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586954 SCV000696717 likely benign not provided 2017-02-02 criteria provided, single submitter clinical testing Variant summary: The STK11 c.375-7G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4/29158 control chromosomes (1 homozygote) at a frequency of 0.0001372, which is approximately 22 times the estimated maximal expected allele frequency of a pathogenic STK11 variant (0.0000063), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likley benign. The variant was reported in one publication in an endometrial cancer patient, without strong evidence for causality (Ring_2016). While the small number of individuals in ExAC with this variant does not allow for the conclusive classification of benign, this variant has been classified as Likely Benign.
PreventionGenetics,PreventionGenetics RCV000586954 SCV000806077 likely benign not provided 2018-01-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586954 SCV000889857 benign not provided 2018-08-09 criteria provided, single submitter clinical testing

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