ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1267A>G (p.Lys423Glu)

dbSNP: rs1555740268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582770 SCV000691484 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-30 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 423 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 hereditary cancer 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.
Invitae RCV001860103 SCV002145517 uncertain significance Peutz-Jeghers syndrome 2022-02-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 492516). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 423 of the STK11 protein (p.Lys423Glu).
Ambry Genetics RCV000582770 SCV002685253 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing The p.K423E variant (also known as c.1267A>G), located in coding exon 9 of the STK11 gene, results from an A to G substitution at nucleotide position 1267. The lysine at codon 423 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well 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.

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