ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.472T>C (p.Cys158Arg)

dbSNP: rs1431247846
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350556 SCV001544962 uncertain significance Peutz-Jeghers syndrome 2021-03-19 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with STK11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 158 of the STK11 protein (p.Cys158Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine.
GeneDx RCV001762604 SCV002000303 uncertain significance not provided 2020-11-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001350556 SCV002057802 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671362 SCV005165168 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-04 criteria provided, single submitter clinical testing The p.C158R variant (also known as c.472T>C), located in coding exon 4 of the STK11 gene, results from a T to C substitution at nucleotide position 472. The cysteine at codon 158 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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