ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.396C>T (p.Cys132=) (rs730881969)

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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 RCV000163260 SCV000213788 likely benign Hereditary cancer-predisposing syndrome 2015-05-24 criteria provided, single submitter clinical testing
Color RCV000163260 SCV000691499 likely benign Hereditary cancer-predisposing syndrome 2015-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000434058 SCV000520552 likely benign not specified 2015-11-05 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.
Integrated Genetics/Laboratory Corporation of America RCV000434058 SCV000918289 uncertain significance not specified 2018-06-05 criteria provided, single submitter clinical testing Variant summary: STK11 c.396C>T alters a non-conserved nucleotide resulting in a synonymous change. STK11 c.396C>T results in a synonymous change. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6.5e-05 in 30906 control chromosomes. 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.396C>T in individuals affected with Peutz-Jeghers Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000204600 SCV000259742 likely benign Peutz-Jeghers syndrome 2017-07-21 criteria provided, single submitter clinical testing

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