ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.143A>G (p.Lys48Arg)

dbSNP: rs766776431
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609565 SCV000712638 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing The p.Lys48Arg variant in STK11 has not been previously reported in individuals with Peutz-Jeghers syndrome or in large population studies. Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Lys48 Arg variant is uncertain.
Color Diagnostics, LLC DBA Color Health RCV000772687 SCV000905946 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-25 criteria provided, single submitter clinical testing
Invitae RCV001321016 SCV001511829 uncertain significance Peutz-Jeghers syndrome 2022-07-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change does not substantially affect STK11 function (PMID: 18687677, 23577667, 30594553, 31217475, 31554794). 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: 505434). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 48 of the STK11 protein (p.Lys48Arg).
Genome-Nilou Lab RCV001321016 SCV002057747 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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