ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.402T>G (p.Cys134Trp)

gnomAD frequency: 0.00001  dbSNP: rs778868074
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178795 SCV001343314 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-15 criteria provided, single submitter clinical testing
Invitae RCV001230390 SCV001402867 uncertain significance Peutz-Jeghers syndrome 2023-08-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 920206). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is present in population databases (rs778868074, gnomAD 0.009%). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 134 of the STK11 protein (p.Cys134Trp).
Genome-Nilou Lab RCV001230390 SCV002057782 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001178795 SCV002625623 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-26 criteria provided, single submitter clinical testing The p.C134W variant (also known as c.402T>G), located in coding exon 3 of the STK11 gene, results from a T to G substitution at nucleotide position 402. The cysteine at codon 134 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV001230390 SCV004816352 uncertain significance Peutz-Jeghers syndrome 2023-11-30 criteria provided, single submitter clinical testing

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