ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.650C>T (p.Pro217Leu)

dbSNP: rs587782146
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130710 SCV000185597 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-10 criteria provided, single submitter clinical testing The p.P217L variant (also known as c.650C>T) located in coding exon 5 of the STK11 gene. This variant results from a C to T substitution at nucleotide position 650. The proline at codon 217 is replaced by leucine, an amino acid with similar 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000130710 SCV000910043 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-11 criteria provided, single submitter clinical testing
Invitae RCV001317687 SCV001508357 uncertain significance Peutz-Jeghers syndrome 2022-07-01 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 expected to disrupt STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 141965). 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 proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 217 of the STK11 protein (p.Pro217Leu).
Genome-Nilou Lab RCV001317687 SCV002057824 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001317687 SCV004816400 uncertain significance Peutz-Jeghers syndrome 2023-11-30 criteria provided, single submitter clinical testing

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