ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.880C>T (p.Pro294Ser)

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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 RCV002373730 SCV002687963 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-20 criteria provided, single submitter clinical testing The p.P294S variant (also known as c.880C>T), located in coding exon 7 of the STK11 gene, results from a C to T substitution at nucleotide position 880. The proline at codon 294 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003471366 SCV004205539 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2023-10-30 criteria provided, single submitter clinical testing
Invitae RCV003617994 SCV004447497 uncertain significance Peutz-Jeghers syndrome 2023-05-15 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: 1764749). 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 serine, which is neutral and polar, at codon 294 of the STK11 protein (p.Pro294Ser).

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