ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.54G>A (p.Met18Ile)

dbSNP: rs755436889
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570526 SCV000664349 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-22 criteria provided, single submitter clinical testing The p.M18I variant (also known as c.54G>A), located in coding exon 1 of the STK11 gene, results from a G to A substitution at nucleotide position 54. The methionine at codon 18 is replaced by isoleucine, an amino acid with highly similar properties. This alteration was seen in 0/732 breast cancer patients, 0/189 colorectal cancer patients and 1/490 cancer-free elderly controls in a Turkish population (Akcay IM et al. Int J Cancer, 2021 01;148:285-295). This amino acid position is 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.
Color Diagnostics, LLC DBA Color Health RCV000570526 SCV000904231 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-21 criteria provided, single submitter clinical testing This missense variant replaces methionine with isoleucine at codon 18 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function. 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 been identified in 1/241242 chromosomes 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001219409 SCV001391345 uncertain significance Peutz-Jeghers syndrome 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 18 of the STK11 protein (p.Met18Ile). This variant is present in population databases (rs755436889, gnomAD 0.0009%). 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: 480711). 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 with a negative predictive value of 95%. 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 RCV001219409 SCV002057724 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569134 SCV005052864 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2024-03-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001219409 SCV005425387 uncertain significance Peutz-Jeghers syndrome 2024-03-24 criteria provided, single submitter clinical testing This missense variant replaces methionine with isoleucine at codon 18 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function. 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 been identified in 1/241242 chromosomes 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005398884 SCV006054149 uncertain significance Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis 2024-10-28 criteria provided, single submitter clinical testing

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