ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.626C>T (p.Thr209Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002368653 SCV002656531 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-25 criteria provided, single submitter clinical testing The p.T209I variant (also known as c.626C>T), located in coding exon 5 of the STK11 gene, results from a C to T substitution at nucleotide position 626. The threonine at codon 209 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003617981 SCV004482605 uncertain significance Peutz-Jeghers syndrome 2023-11-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 209 of the STK11 protein (p.Thr209Ile). 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: 1752542). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.

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