ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1231C>G (p.Pro411Ala)

gnomAD frequency: 0.00001  dbSNP: rs772527201
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166856 SCV000217671 likely benign Hereditary cancer-predisposing syndrome 2023-05-23 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.
Invitae RCV000476238 SCV000541154 likely benign Peutz-Jeghers syndrome 2023-09-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986035 SCV001134836 uncertain significance not provided 2019-04-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000476238 SCV002057979 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000986035 SCV002526470 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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