ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1185A>G (p.Thr395=) (rs370207155)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123054 SCV000166349 benign Peutz-Jeghers syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000213032 SCV000171895 benign not specified 2014-03-24 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.
Ambry Genetics RCV000128303 SCV000212865 likely benign Hereditary cancer-predisposing syndrome 2014-06-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000213032 SCV000304386 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000123054 SCV000488889 likely benign Peutz-Jeghers syndrome 2016-07-12 criteria provided, single submitter clinical testing
Color RCV000128303 SCV000686602 likely benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586467 SCV000696705 benign not provided 2017-02-09 criteria provided, single submitter clinical testing Variant summary: The c.1185A>G (p.Thr395=) in STK11 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.0004106 (31/75494 chrs tested), predominantly in individuals of European origin (0.0006144; 26/42320 chrs). The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant in this gene (0.0000156), suggesting that it is a benign polymorphism. The variant was identified in at least 1 HBOC pt without strong evidence for causality. The variant of interest has been cited as Benign by multiple reputable databases/clinical laboratories. Taking together, the variant was classified as Benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586467 SCV000888637 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Mendelics RCV000123054 SCV001140948 likely benign Peutz-Jeghers syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000586467 SCV001151581 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000123054 SCV001287491 uncertain significance Peutz-Jeghers syndrome 2018-10-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
True Health Diagnostics RCV000128303 SCV000788214 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 no assertion criteria provided clinical testing

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