ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1226G>C (p.Arg409Pro)

dbSNP: rs587782364
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064346 SCV001229243 uncertain significance Peutz-Jeghers syndrome 2023-07-20 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 858468). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 409 of the STK11 protein (p.Arg409Pro).
Color Diagnostics, LLC DBA Color Health RCV001177476 SCV001341701 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001064346 SCV002057977 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001177476 SCV002667163 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-10 criteria provided, single submitter clinical testing The p.R409P variant (also known as c.1226G>C), located in coding exon 9 of the STK11 gene, results from a G to C substitution at nucleotide position 1226. The arginine at codon 409 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002464366 SCV002758982 uncertain significance not provided 2022-12-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28900777)

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