ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.351A>G (p.Leu117=)

dbSNP: rs2080758837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002109387 SCV002400508 likely benign Peutz-Jeghers syndrome 2022-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454453 SCV002613806 likely benign Hereditary cancer-predisposing syndrome 2020-01-02 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.
PreventionGenetics, part of Exact Sciences RCV003895786 SCV004713251 likely benign STK11-related disorder 2023-10-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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