ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.536C>T (p.Pro179Leu)

dbSNP: rs786202466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165287 SCV000216005 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-25 criteria provided, single submitter clinical testing The p.P179L variant (also known as c.536C>T), located in coding exon 4 of the STK11 gene, results from a C to T substitution at nucleotide position 536. The proline at codon 179 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001062846 SCV001227669 uncertain significance Peutz-Jeghers syndrome 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 179 of the STK11 protein (p.Pro179Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 185798). 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. 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.
Genome-Nilou Lab RCV001062846 SCV002057805 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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