ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1182C>T (p.Gly394=)

gnomAD frequency: 0.00001  dbSNP: rs376679847
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696421 SCV000824982 likely benign Peutz-Jeghers syndrome 2023-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010191 SCV001170348 likely benign Hereditary cancer-predisposing syndrome 2019-01-02 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.
Genome-Nilou Lab RCV000696421 SCV002057318 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV002462036 SCV002757120 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV000696421 SCV004835603 uncertain significance Peutz-Jeghers syndrome 2023-11-20 criteria provided, single submitter clinical testing This variant is located in the STK11 protein. 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 2/267996 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.

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