ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.437A>G (p.Lys146Arg)

dbSNP: rs1555737812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560069 SCV000629113 uncertain significance Peutz-Jeghers syndrome 2024-02-01 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 146 of the STK11 protein (p.Lys146Arg). 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: 458044). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV001022388 SCV001184117 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-28 criteria provided, single submitter clinical testing The p.K146R variant (also known as c.437A>G), located in coding exon 3 of the STK11 gene, results from an A to G substitution at nucleotide position 437. The lysine at codon 146 is replaced by arginine, an amino acid with highly similar properties. 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.
Genome-Nilou Lab RCV000560069 SCV002057790 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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