ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1046A>C (p.Glu349Ala)

dbSNP: rs757815836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458847 SCV000541146 uncertain significance Peutz-Jeghers syndrome 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 349 of the STK11 protein (p.Glu349Ala). 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: 403783). 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. 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.
Ambry Genetics RCV002402227 SCV002707763 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-20 criteria provided, single submitter clinical testing The p.E349A variant (also known as c.1046A>C), located in coding exon 8 of the STK11 gene, results from an A to C substitution at nucleotide position 1046. The glutamic acid at codon 349 is replaced by alanine, 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150212 SCV003837871 uncertain significance Breast and/or ovarian cancer 2022-01-25 criteria provided, single submitter clinical testing

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