ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1032G>A (p.Leu344=)

dbSNP: rs371928158
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424147 SCV000527753 likely benign not specified 2016-05-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002525410 SCV003011446 likely benign Peutz-Jeghers syndrome 2022-05-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584600 SCV004362415 likely benign Hereditary cancer-predisposing syndrome 2022-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003584600 SCV005035507 likely benign Hereditary cancer-predisposing syndrome 2023-10-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999403 SCV005624849 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing The STK11 c.1032G>A (p.Leu344=) synonymous variant has not been reported in individuals with STK11-related conditions in the published literature. The frequency of this variant in the general population, 0.0000041 (1/242976 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect STK11 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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