ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.860A>G (p.Lys287Arg)

dbSNP: rs1349316725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064819 SCV001229742 uncertain significance Peutz-Jeghers syndrome 2019-11-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 287 of the STK11 protein (p.Lys287Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant has not been reported in the literature in individuals with STK11-related conditions. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Ambry Genetics RCV002445336 SCV002681409 likely benign Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV001064819 SCV004842580 uncertain significance Peutz-Jeghers syndrome 2023-12-15 criteria provided, single submitter clinical testing

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