ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.95C>T (p.Thr32Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003618452 SCV004413199 uncertain significance Peutz-Jeghers syndrome 2023-02-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with STK11-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 32 of the STK11 protein (p.Thr32Ile). This variant is not present in population databases (gnomAD no frequency). 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.
All of Us Research Program, National Institutes of Health RCV003618452 SCV004840743 uncertain significance Peutz-Jeghers syndrome 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 32 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with STK11-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004574250 SCV005052875 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2024-02-22 criteria provided, single submitter clinical testing

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